Indian Demographic History and Cultural
Discussion of Certain Limitations on the Use
of mtDNA and Y
PO Box 4445
DNA (mtDNA) and Y chromosome studies have been used increasingly over the
last 20 years by
anthropological geneticists and others to reconstruct the peopling of the
Americas as well
as to infer American Indian cultural affiliation and demographic histories.
promise of this method is great, there are several problems inherent in some of
These limitations are discussed concerning the following six currently accepted
interpretation of coalescent times as times of origin; 2) the current uses of
3) sample sizes;
4) use of language groups to define population groups; 5) use of contemporary
reservations to infer prehistoric tribal history; and 6) a combination of these
American Indian population history, historic migrations, and demographic
concludes that caution must be exercised in claiming too much for the method.
Instead, it is
recommend that it be used in conjunction with other established sources of data
such as oral
history, ethnography, linguistics, and archaeology when attempting to
cultural history or in determining the cultural affiliation of groups.
anthropology, haplogroups, demographics, cultural affiliation, American Indians
genetics is one of the more recent sub-fields in the study of American
affiliation and demographic history, dating back some 60 years (see Matson and
Matson 1938). However, in the last 20 years advances in technology have
anthropological geneticists to explore the origin of modern humans, the size and
origin of human populations, as well as the possibility of finding ethnic or
people’s homelands. Recent articles using genetic data have claimed to link
Asian populations with North American Indian populations as having recent
(Brown et al. 1998), identified a single wave of migration for the peopling of
the New World
(i.e., Bianchi et al. 1997; Easton et al. 1996; Merriwether et al. 1995) as
(i.e., Karafet et al. 1997), and concluded that some American Indian tribes
moved into a
geographic area (Kaestle 1997; Kaestle and Smith 2001) despite contrary evidence
history and archaeology. Some of the most publicized uses of genetic
concern the question of the peopling of the Americas, and in compliance with the
Graves Protection and Repatriation Act (NAGPRA), as seen in such cases as
the Spirit Cave
Mummy and the Kennewick Man repatriation controversies. In these two
situation is complicated by the great antiquity of the skeletons, 9,415+/-25
8410+/-60 years ago, respectively (Napton 1997; Chatters 2000). The potential
this new genetic
research has to offer are vast and highly valuable. Such benefits include a
the genetic and evolutionary factors that influence populations; an
maternally transmitted diseases such as blindness, epilepsy, dementias, cardiac
muscle diseases, diabetes mellitus, and movement disorders; the development of
and genetic therapies for mitochondrial diseases; and a better understanding of
origin of anatomically modern humans, to name just a few. However, caution is
applying the methods and results of present genetic research to the use of
affiliation and demographic histories. This paper examines six weaknesses
current uses of genetic anthropology that attempt to resolve questions of
prehistoric cultural affiliation: 1) interpretation of coalescent times as times
2) the current
uses of haplogroups; 3) sample sizes; 4) use of language groups to define
groups; 5) use of contemporary American Indian reservations to infer prehistoric
and 6) a combination of these to determine American Indian population history,
migrations, and demographic history.
Times as Times of Origin
A first problem
confounding the uses of mtDNA (mitochondrial deoxyribonucleic acid)
chromosomes to infer American Indian demographic histories is in interpreting
of genes as times of origin for the population. Although tracing the genealogy
theoretically can lead to a single common ancestor, this is not evidence that
went through a period when only one breeding population was alive and
Tracing the coalescent times leads to one ancestor of a unilineally transmitted
of markers, but
the descendents of the original mtDNA will have had haplotype frequencies that
themselves, resulting in a biased sample of the total historic population when
times. This is so because working back in time is does not allow one to take
into account the
various branches of diversity that the historic population had, but only can
history of the specific marker being coalesced. Three primary assumptions
from the use of
coalescent times (Hoelzer et al. 1998; Hudson 1990; Templeton 1993; Wolpoff
1999) that have
been employed in understanding American Indian demographic history are:
coalescence is a regular process of mutation accumulation in neutral systems,
can be timed like a regularly ticking clock with an acceptable range of
Indian populations were isolated from each other after they originated or
migrated to the
C) the history
of particular gene systems is the history of the specific populations in
which they are
Prior to the
historic period, and especially before the formation of reservations beginning
in the 1850s,
many American Indian groups were highly mobile autonomous entities, covering
large areas of
land. Similarly, many American Indians practiced a high degree of spousal
intergroup marriage among other groups in order to solidify trade arrangements
alliances. Some of these exchanges took place well over 500 miles from where the
group has been
historically recorded to inhabit. Examples of these trade centers are the large
of the Northwest Coast such as The Dalles, Celilo Falls, and the Lillooet River
(Schuster 1998; Stern 1998; Hayden 1992) where groups from the Northwest Coast,
Northern Plains, and Great Basin regions gathered. Other examples can be found
archaeological record that show similar large regional centers that may have
redistribution centers such as Chaco Canyon in the US southwest (Lekson
2000) and Monte
Alban, San Jose Mogote, Tlapacoya, and Tlatilco in central Mexico (Flannery
1994). In fact, as Walker (1998:5-6) has noted for the Plateau peoples, “It is
peoples were and remain highly inter-active maintaining extensive intergroup
well as extensive linkages with the Plains, Northwest Coast, and Great Basin
Connections with Subarctic groups are evident in the northern reaches of the
requirement in the coalescence theory is the use of random samples of
genes from the
population under study. However, most studies have not used random samples,
but instead have
used convenience samples obtained from diabetic studies, rheumatic studies,
studies, as well as other studies (Jones, in preparation; also see below). As
(1995: 418) point out, “In practice, genetic data are typically obtained from
samples rather than proper random samples. There is an obvious danger that such
data may contain
individuals who share relatively too much ancestry on the relevant timescales.
The extent to
which application of coalescent (or traditional) methods to such convenience
samples may be
misleading remains an open, and potentially serious, question.” Furthermore,
rely on the idea that American Indians came over in small groups (usually
to have occurred
as part of one to three migration waves; see Dillehay 2000 to cite one recent
work) across the
Bering Land Bridge in prehistoric times. If this is the case, coalescence times
will be shorter
because smaller populations in the past are more likely to share ancestors
Tavare 1995: 410), and thus lead to an accelerated time of origin for American
Indians and thus
not truthfully demonstrating the occupational time depth American Indians have
in the Americas.
departures from random mating due to inbreeding, assortative mating, or
stratification can lead to non-random association between genotypes and further
interpretation of the data and coalescent times. One such example is the
moiety and clan system among the Tlingit peoples of southern Alaska. Among the
marriage was always with a member of one’s opposite moiety, and preferably with
member of the
father’s clan and house (De Laguna 1975). Therefore, the Tlingit as well as many
Indian groups of the Northwest Coast and other regions practiced a highly
non-random form of mating that could influence the genetic data (see Handbook
American Indian series published by the Smithsonian Institution). There is
also a growing
body of evidence
suggesting that there could have been various forms of admixture between
Indians, Japanese, and Russians during the last 500 years (Quimby 1985; van
1999), not to mention known examples of admixture during the historic period
traders, explorers, and other Europeans. Likewise, Karafet et al. (1997)
that because of
the presence of the 1T haplotype (a Y chromosome combination haplotype [see
next section for
a discussion of haplotypes]) in both northeastern Siberia and the Americas, the
historic and prehistoric back-migration is extremely likely. Similar studies
also noted the
possibility of gene transfer or the “hitch-hiking theory” among American Indian
populations (Bianchi et al. 1997; Bradman and Thomas 1998; Hudson 1990). Because
times are frequently a result of the fusion of several of the ancient
clusters and not the age of individual populations (Watson et al. 1997), faulty
results may be
reported. It is evident that neither American Indians nor specific American
groups were ever
isolated populations and that the history of a contemporary group’s genes are
not a specific
history of that American Indian population. Therefore, using gene coalescent
possible times of origins for American Indians can lead to spurious conclusions,
there is no
evidence that American Indians were ever: 1) part of a neutral system that can
timed like a
regularly clicking clock, 2) were isolated from each other or from Asian
and 3) that the
current genes systems found in a particular population fully represent the
and history of
Uses of Haplogroups
Although it has
been noted that limitations exist when studying only one gene (Chen et
Karafet et al. 1997; Mountain and Cavalli-Sforza 1997), most studies still rely
one gene and its
alleles because of the ease in identifying differences in a restricted location
especially in non-recombining genes such as mtDNA. The allele sequences that
called haplotypes, which for American Indians presently fall into five
B, C, D, and X), and have been used in most studies concerning American
One of the
current limitations with the uses of haplogroups for inferring American Indian
affiliation is that there is the possibility of discovering new haplotypes as
more tribes are
techniques develop (Easton et al. 1996; Karafet et al. 1997; Schurr et al. 1990;
et al. 1999). By
testing only for known haplotype frequencies, it is likely that other haplotypes
undetected, resulting in spurious conclusions from simplified haplotype
Along with the
possibility of new haplotypes being discovered, it is known that many
groups were not stationary and the use of within-local-population frequencies
for the genetic
sequences, highly affected by each population’s specific recent demographic
thus when relying on the use of haplogroups, scientists will probably
diversity of American Indians as a whole (Bonatto and Salzano 1997). Therefore,
results between CR (control region) sequences and RFLP (restriction fragment
polymorphism) data cannot be explained either by sample size or attributed to
in which the haplotype frequencies were treated, but are more probably due to
populations or regions of the mtDNA studied. Furthermore, the only changes
genes are point mutations, insertions, and deletions (with insertions and
being rare in
comparison to point mutations). This means that each of the four possible
can be thought of as containing the founding lineage haplotype plus a collection
lineage’s descendants. However, as has been noted for the Y chromosome, the
eventually die out, shifting time, haplotype frequency, or relationships
Thomas 1998) and can result in faulty data when comparing present American
frequencies to those of ancient American Indian haplotype frequencies. As
Thomas (1998) pointed out using the insertion of the YAP (Y chromosome alu
indel (insert) on the Y chromosome, descendents of individuals after only one
not carry the same Y chromosome alleles. It is possible that a descendent of the
first acquired the YAP indel may lose that indel, yet still remain a descendent
individual. This is also possible with mtDNA, where a father’s son or daughter
genetic information of that person’s father’s mother. By only looking at
mutations, insertions, and deletions can be viewed as coming from discontinuous
Likewise, “the combination of a decrease in the effective population size and
hitch-hiking may have been the cause producing a single variety of Y-chromosomes
ancestors of extant Amerindians,” (Bianchi et al. 1997: 87) which would result
in determining affiliation between American Indian groups. Similarly, because
genome undergoes no recombination, the 16,569-bp genome behaves
as a single locus. As MacEachern (2000: 358) recently notes, “In particular, it
there may be significant variability in selection mechanisms on the genome
and in the
mitochondria and in rates of phylogenetic versus intergenerational mtDNA
that are only
now being appreciated (Gibbons 1998; Parsons, Muniec, and Sullivan 1997).”
inferences from any one such locus lack robustness (Pamilo and Nei 1988). As
of the potential inaccuracy in using a constant molecular clock, estimates of
are going to be imprecise (Donnelly and Tavare 1995; Hoelzer et al. 1998).
Because of the
high mobility of American Indian groups in the prehistoric, along with examples
marriage and non-random mating, there is ample reason to believe that the
American Indians is much more complex then the current five haplogroup
lead us to
Many of the
discrepancies and much of the unreliability of the data employed in
genetic studies lies in the sample sizes of the populations used. Variations in
are commonly attributed to bottlenecks and the so-called founder principle in
population encounters a severe reduction in size or a few individuals colonize a
resulting in a
small selection of gene frequencies as compared with the original population.
important complication that makes it impossible to determine census size of a
human group as a direct estimate of the effective population size is that human
have overlapping generations. Rogers and Jorde (1995: 1-36) have shown that the
only sense in
which sequence diversity can be employed as a measure of age is as an estimation
of the time
during which a particular population has expanded after experiencing a severe
This is because we are dealing with alleles (haplotypes), and not with distinct
fact, the error variance increases with time and the earliest observations are
Computer simulations that suggest that the four major haplogroups found among
Indians underwent a bottleneck followed by a large population expansion may be
These simulations are based primarily on the analysis of CR sequences from
and do not take into account haplogroups B, C, D, and X (as well as the
haplogroups being discovered). Similarly, although most studies on the problem
original occupation of the Americas have used sequence diversity as a measure of
investigated whether their samples met the very stringent assumptions required
(Bonatto and Salzano 1997: 1417). Furthermore, Bonatto and Salzano (1997: 1417)
have also noted
that studies using RFLPs found that haplogroup B had a much lower diversity
than the other
three (A, C, D) which would lead to inaccurate computer simulations. Based on
current dates from mtDNA and Y chromosome studies contending that American
in the “New World” around 35,000 years ago can be questioned (Bonatto and
Brown et al. 1998). This number is actually the time during which American
theoretically experienced an expansion after a bottleneck. However, it is
unknown if this
place in Asia, the generally accepted origin of American Indians, or in the
their arrival, nor is it known what effects migrations and subsequent
and other factors have on this time estimation. Therefore, the date of 35,000
ago could be
the time one group of American Indians entered the “New World” or when a group
bottleneck in Asia and subsequently entered the Americas, or any number of other
with the current sample sizes being used is the actual numbers of
tested to infer the genetic makeup of the entire population. Typically, sample
four and 30 individuals per tribal population; this is insufficient to detect
more than the
most common haplotypes in each population. Although it is necessary to have
from 50 males or 50 females of an individual population to accurately infer
demographic history, no study has done this (Wells 2000). The largest study to
Indians dealt with 2,198 males from 60 global populations, including 20 American
(Karafet et al. 1999; this study relied on large amounts of data gathered from
published reports, and thus could not correct for those sample sizes). However,
Eskimo and Navajo samples were over 50 at 62 males and 56 males respectively.
from as high as 44 to as low as two individuals. It is unrealistic to assume
can get an
accurate picture of a tribe’s genetic frequencies using only two males. In fact,
suggests that we may not be able to distinguish loss of lineages after one
separate migrations from a common source population, thus further stressing the
adequate population sample sizes. A clear example of the importance of sample
seen in Easton
et al.’s (1996) study and Torroni et al.’s (1993) study on the Yanomamo. In
Easton et al.’s
sample they detected both haplotypes X6 and X7, but in Torroni et al.’s sample
neighboring village they did not detect any of these two haplotypes. As Ward et
noted, a sample size of 25 will detect ~63 percent of the lineages in a tribe
diversity. In tribes with extensive diversity a sample size of 25 individuals
percent of the lineages and sample sizes of 70 or above are required to detect
thirds of the
lineages. The fact that the majority of studies lack the required sample sizes
detect even 63 percent of the lineages in a normally diverse tribe brings into
of the results of these studies, especially when it has been noted that most
tribes are believed to have a high level of diversity (Ward et al. 1993).
In the past, as
now, choice of mates is largely dictated by geographic, socioeconomic,
ethnic, and other constraints. This has the effect of subdividing and
gene pool of a
population in very complex ways. Likewise, migration is also difficult to
from mtDNA and Y chromosomes. The most meaningful measure of migration from
a genetic point
of view is obtained by taking the generation as the time unit. Measuring the
between birthplaces of parent and offspring theoretically can yield a
migration. However, this method works only for a continuous model in which the
constant, and is not entirely satisfactory when the population is highly
most prehistoric American Indian populations were (Cavalli-Sforza and Bodmer
similar limitation in using such data to infer migrations is that exchange
clusters is frequent enough among American Indians to violate the rules of the
stepping-stone models (Cavalli-Sforza and Bodmer 1971:433).
of human DNA confounding many of the current uses of this data to
hypothetical demographic histories is that human mtDNA variation is high.
genetic variation within populations is much greater than between
1999:551). What this means is that mtDNA evolution, and possibly the evolution
systems, is not the same as the evolution of particular populations. As Scozzori
al. (1999) have
noted, groups or tribes thought to have descended from a common ancestor more
years ago may have lost even their shared-by-descent portion of their gene pool
can no longer
be detected as affiliated through genetic analysis. Likewise, population
the gene trees inferred from these sequences are generally inconsistent with
prehistoric population affiliation. Page and Charleston (1990) have identified a
visualizing and quantifying the relationship between a pair of gene and species
a third, reconciled tree. Reconciled trees use a more critically optimal method
combined history of genes and populations. However, even this more accurate
depicting gene and population trees has limitations such as allele phylogenies
transfer, neither of which has been addressed in studies concerning American
history. In fact, many of the polymorphisms observed for mtDNA probably
population separations (Mountain and Cavalli-Sforza 1997) and would not be
genetic, population, or reconciled trees. Mitochondrial DNA or Y chromosome
not human populations. In order to estimate the significance of variation of
between groups, it is necessary to estimate how large a sample must be in order
of the group. This can only be accomplished if an accurate estimate of the real
variation to be
expected in the gene frequencies is possible. This estimation is valid only for
dominance, in which case genes can be counted. However, if people in the sample
from a given
tribal village or town are closely related, a single source of variation may
estimate of variance between populations (Cavalli-Sforza and Bodmer 1971:422).
analysis, or the use of more than one trait or gene, which is presently the most
employed method of analysis, poses more difficult problems in that one must
maximum number of genes possible for each population in order to be accurate.
many authors have tested only a small set of markers on one gene (univariate)
(Cavalli-Sforza et al. 1994: 22), combining their data with those of others to
in several sets
of markers to arrive at their multivariate analysis. Not only have limited
of markers been
studied and subsequently combined with other studies (which was noted above),
mutation rate for insertions and deletions on those markers is unknown.
Not only have
sample sizes of groups or tribes being tested been inadequate, but most
relied on the use of controversial linguistic phyla in order to place their data
quantifiable groups. However, as several papers have pointed out, not only do
between languages and populations differ (i.e., Barbujani 1997; Karafet et al.
et al. 1999; Schurr et al. 1999), but there is no agreed upon set of linguistic
Indians (Greenberg et al. 1986; Greenberg 1987; Bateman et al. 1990; O’Grady et
Ruhlen 1987, 1994). Most studies use several linguistic phyla that are subject
criticism, such as Altaic s.l., Austric s.l., Indo-Pacific, Amerind
(sensu Greenberg 1987),
s.l., which are in turn awarded equal status as more accepted phyla from other
of the world
such as Sino-Tibetan, Indo-European, and Dravidian (Bateman et al. 1990).
has been noted that “given 56% correspondence between linguistic phyla and
aggregates at the coarse level of resolution, 11% correspondence at the fine
integrity of both superphyla, the parallelism between the genetic and linguistic
does not strike
us as especially ‘remarkable’” (Bateman et al. 1990:7). Likewise, “there is an
problem of time scales involved in this work, since at this point neither
research can lay claim to chronometric techniques comparable in precision to
archaeologists and historians” (Pluciennik 1995:44-45). Languages do not change
and therefore using contemporary linguistic phyla to extrapolate prehistoric
groups is ill-founded. For example, in 1995 there were approximately 209 native
languages still spoken, close to only half the number that existed five hundred
(Goddard 1996). Similarly, of the Eastern Algonquian languages, only seven were
spoken in 1970
out of a total of 20 from 200 years earlier (Goddard 1978).
Many of the
researchers conducting genetic tests have noted the discrepancies between
phyla and genetic phyla. Scozzari et al. (1999) concluded that geography is a
identifying affiliation then linguistics. Likewise, Poloni et al. (1997)
genetic data is
more accurate and useful for distinguishing between linguistic phyla than
the same language family. Finally, Schurr et al. (1999) noted that populations
peninsula were genetically similar based on geography but quite divergent when
linguistically related groups. Therefore, the use of linguistic phyla may be
the differences between language phylas (i.e., between Na-Dene and
Aluet), but not
as useful when studying groups within the same language phyla (i.e., Yakama and
Nez Perce). Not
taking into account the current discrepancies between American Indian
can lead to several different conclusions depending on how the linguistic and
are combined. For example, Karafet et al. (1997) found that Y chromosome
markers did not
agree with the linguistic phyla proposed by Greenberg et al. (1986) for the
peopling of the
Americas. However, in a later study using different Y chromosome markers
Karafet et al.
(1999) did agree with the linguistic phyla proposed by Greenberg et al. (1986).
have arrived at similarly contradictory conclusions (see Schurr et al. 1999;
To use current
American Indian languages as a baseline for prehistoric American
affiliations and population groups seems presumptuous. Until linguistic
agree upon the classifications of American Indian languages, they should not be
as a means of
inferring and objectifying prehistoric population groups.
Contemporary American Indian Reservations and Demographic
As noted above,
the current sample sizes of most studies fall far short of a reasonable
individuals being tested to be considered an accurate data set of the
besides the limitations arising from the small sample sizes, as well as those
present use of linguistic phyla, there are even greater problems lying in what
consider populations. Presently, studies concerning American Indian cultural
history test individuals from a reservation and combine their allele frequencies
to arrive at
the haplotype makeup of that population. Therefore, the researchers are using
American Indian reservation demographics to arrive at a population that they
infer back into
prehistory. However, one of the primary problems with this method is that most
American Indian reservations are not made up of a single group, but consist of
different groups of American Indians that prior to being forced onto
groups. For example, Merriwether et al. (1995) use samples from Haida, Dogrib,
contemporary American Indian reservation groups which they consider as one
group. However, the Dogrib as a whole tribe were prehistorically made up of
that occupied a large area in the Northwest Territories, Canada, between the
Lake in the south to the Great Bear Lake in the north and from the lowlands on
east side of
the Mackenzie River to Contwoyto, Aylmer, and Artillery Lakes. The Dogrib are
known to have
had regular contact with the Bearlake Indians, the Slaveys, Chipewyans, and
Eskimos (Helm 1981: 291). Likewise, the Haida, along with other Northwest Coast
known to have traded slaves up and down the coast. The Haida traded slaves they
the Kwakiutl with the Tlingit (Blackman 1990). Other such examples can be
found in the
studies by Smith et al. (1999), Karafet et al. (1999), Lorenz et al. (1996), and
et al. (1998)
that use contemporary reservation groups as prehistoric population groups. Such
groups as the Yakama and Apache are good examples. The present Yakama
Washington is made up of at least five different groups that were
bands or groups (Schuster 1998). Similarly, there is still much disagreement
specialists as to how many different Apache groups there were prior to the
Euroamericans. Currently there are seven recognized Southern Apachean speaking
Chiricahua, Jicarilla, Kiowa-Apache, Lipan, Mescalero, Navajo, and Western
depending on “how much more extensive their territories are conceived to have
in the past
depends upon one’s view of claims that the Querechos, Vaqueros, Teyas, Janos,
Mansos, Sumas, Cholomes, Jumanos, Cibolos, Pelones, Padoucas, and various other
groups named in
early Spanish and French records were Apacheans” (Opler 1983:368). Finally,
over the last
hundred years reservation populations have been greatly affected by outmarriage
tribal groups and marriage with non-Indians. An example of this change can be
in a study done
by Walker (1990; see also Walker 1972) for the Confederated Tribes of the
Reservation (CTUIR). This study showed that in 1990 54 different tribes were
the blood of CTUIR individuals (see Table 1). Furthermore, one CTUIR
various amounts of Cayuse, Walla Walla, Umatilla, Nez Perce, Snohomis, and
blood, while another individual had Umatilla, Cayuse, Walla Walla, Yakama, Nez
Quinault, Snoqualmie, Cascade, and non-Indian blood. It is evident that the
studies are using to infer American Indian cultural affiliation and demographic
history are not
acceptable. One cannot use contemporary allele frequencies from a few
a contemporary American Indian reservation to arrive at an unequivocal haplotype
for that group,
either presently or prehistorically.
Blood Types found in CTUIR Tribal Members
Sac and Fox
problem in the use of contemporary American Indian reservations can be found
in the use of
ancient DNA (aDNA). Several reports have used aDNA to construct ancient
that are then compared to present American Indian reservation populations. These
plagued by many of the limitations already noted such as sample size,
possibility of mutation addition or deletion, and other factors. Kaestle (1997)
compare an ancient population from western Nevada to those of contemporary
populations in the region through haplogroup frequencies. However, Kaestle’s
spanned 5000 years in time. A genetic sample dating to 5905+/-125 years BP
part of the same population as a genetic sample dating to 860+/-75 years BP
automatically designating contemporary American Indians as part of that
“Ancient DNA samples are not populations in the traditional sense of the term.
specimens that constitute aDNA samples may span several centuries and even
space. Thus they are the equivalent of sampling an individual every few
a continuous population” (O’Rourke et al. 2000). This is especially true when
are then compared to contemporary American Indian reservations that each have
unique demographic history. Likewise, the use of aDNA models to reconstruct a
assume (or cannot accurately model) that these ancient populations were somewhat
that these populations did not practice forms of intergroup or outgroup
previously noted for the Northwest Coast and the Plateau regions, highly complex
intergroup marriage have been practiced for centuries. Complex forms of
also been documented for Great Basin tribes (see D’Azevedo 1986). Not only has
extensive intergroup marriage within regions, but also between regions as noted
should be noted that many of the scientists conducting these studies acquire a
proportion of their blood samples or genetic material through convenience
samples means that the blood samples or genetic material were not collected by
scientist, but instead through third parties. Many of these third parties
blood or genetic material for other reasons, such as diabetes testing. A review
has revealed that over a hundred institutions have allowed these scientists
blood, a lot of the time without the individual who gave the blood having any
this. Though there are many problems with this in and of itself, the point that
the present discussion is that the scientists have no means of verifying the
affiliation of the blood sample they are using. For example, when an individual
goes in for
testing, they designate themselves and their tribal affiliation, through there
this designation is correct, nor is there any knowledge of that individuals
history. This fact could greatly mislead the scientists into concluding various
frequencies that may not be correct.
and American Indian Cultural Affiliation
The fact that
most studies have not addressed the above concerns is only part of the
with applying anthropological genetics to American Indian demographic history
affiliation. In fact, no studies concerning American Indians have seriously
the demographic history of the last 500 years when Euroamericans arrived in the
Almost every contemporary American Indian tribe or group in the Americas has
severe epidemic diseases, depopulation, acculturation, and displacement from
These factors have caused some tribes to disappear, others have experienced
fluctuations greater than 80 percent, and some have been displaced from their
hundreds of miles (Boyd 1999; Dobyns 1983; Ehle 1988; Jones 2002). For example,
Indians of California numbered upwards of 310,000 during the eighteenth century,
by the turn of
the twentieth century the native population had dropped to 20,000 (Cook 1978).
population declines are known for the Plateau with a loss of approximately
1805 and 1860 (Boyd 1990), the Northwest with a population decline from
200,000 Natives in 1774 to 40,000 in 1874 (Boyd 1990, 2000), as well as other
Furthermore, admixture with historic Europeans and Euroamericans such as fur
explorers, African Americans, and earlier settlers must be accounted for; it is
not well documented, that many of these non-indigenous peoples married or
Any mtDNA or Y
chromosome study that attempts to date the first appearance of a
population in a certain geographical area as big as the Americas or as small as
should be based on extensive sampling, not only of the population under
but also of potential source populations and neighboring populations. A
analysis can then theoretically identify the putative founder sequences. This
the mutations distinguishing these founders must be disregarded in order to set
clock to zero to coincide with the arrival of a particular population in the new
scientific care must be exercised in choosing realistic demographic models to
process adequately. For example, current models that assume constant population
size and random
mating would be unrealistic in most situations for the following reasons: 1)
arrival in a
new area is likely to trigger subsequent population expansion for many
2) for a
population on the move, the demographic pressure is more relaxed, allowing
fluctuate rather freely, without statistically conforming to an expected
size; 3) over a
period of tens of thousands of years, environmental conditions often change
obviously influencing the effective population sizes; and 4) ongoing gene flow
populations will inevitably distort the estimation of nucleotide diversity, and
time estimate (Forster et al., 1996: 944).
and Y chromosome studies can provide insights on America Indian
prehistoric relationships, they should be used with caution. Mitochondrial DNA
studies are in their infancy. Because of the various limitations listed above,
well as a lack
of correlation between anthropological genetic data, archaeological data,
data, and oral tradition, these studies should be viewed as inchoate and
investigation and support from the other fields of anthropology. Current
Spirit Cave Man and Kennewick Man should not be resolved only by mtDNA or Y
testing. The mtDNA and Y chromosome data for American Indians, as well as
regions throughout the world, have serious limitations. However, because of the
authoritative validity of these studies there is great danger that they will
the validity of the hypothesized associations between American Indian groups.
would be ill-advised to rely on the claims put forth by mtDNA and Y
inferred American Indian studies because they take little account of the vast
ethnographic, linguistic, historical, and archaeological research. However,
ethnologists, linguists, and historians should take note of some of the
made by anthropological geneticists. It is believed that mtDNA and Y
offer an opportunity for discourse among our often disparate fields, allowing
us to achieve a
greater understanding of American Indian cultural affiliation and demographic
However, further studies should gain tribal approval before using tribal blood,
claims are subsequently made denying various affiliations between that tribe’s
blood and other
groups or ancient skeletons.
F. Rothhammer, F.R. Carnese, C.M. Bravi, and N.O. Bianchi. 1994. Founder
Haplotypes in Amerindian Populations. American Journal of Human Genetics,
Guido. 1997. DNA Variation and Language Affinities. American Journal of Human
Richard, Ives Goddard, Richard O’Grady, V.A. Funk, Rich Mooi, W. John Kress, and
1990. Speaking of Forked Tongues: The Feasibility of Reconciling Human
the History of Language. Current Anthropology, 31(1):1-13.
and Mark Thomas. 1998. Why Y? The Y Chromosome in the Study of Human
Migration, and Prehistory. Science Spectra, 14:32-37.
G. Bailliet, C.M. Bravi. 1994. Peopling of the Americas as Inferred Through The
Mitochondrial DNA. Brazil Journal of Genetics, 18:661-668.
Nestor, Graciela Bailliet, Claudio Bravi, Raul Carnese, Francisco Rothhammer,
Martinez-Marignac, and Sergio Pena. 1997. Origin of Amerindian Y-Chromosomes as
Inferred by the
Analysis of Six Polymorphic Markers. American Journal of Physical
Margaret B. 1990. Haida: Traditional Culture. In Handbook of North American
Vol. 7: Northwest Coast. Edited by Wayne Suttles. Washington D.C.:
L. and Francisco M. Salzano. 1997. Diversity and Age of the Four Major
Haplogroups, and Their Implications for the Peopling of the New World.
Human Genetics, 61:1413-1423.
1990. Demographic History, 1774-1874. In Handbook of North American Indians,
Northwest Coast. Wayne Suttles ed. Washington D.C.: Government Printing
1999. The Coming of the Spirit of Pestilence: Introduced Infectious Diseases
Decline among Northwest Coast Indians, 1774-1874. Seattle: University of
D., Seyed H. Hosseini, Antonio Torroni, Hans-Jurgen Bandelt, Jon C. Allen,
Schurr, Rosaria Scozzari, Fulvio Cruciani, and Douglas C. Wallace. 1998. mtDNA
An Ancient Link between Europe/Western Asia and North America? American
Human Genetics, 63:1852-1861.
L.L., and W.F. Bodmer. 1971. The Genetics of Human Populations. San
Freeman and Company.
L. Luca, Paolo Menozzi, and Alberto Piazza. 1994. The History and Geography
Genetics. Princeton, New Jersey: Princeton University Press.
C. 2000. The Recovery and First Analysis of an Early Holocene Human
Kennewick, Washington. American Antiquity, 65(2):291-316.
Antonel Olckers, Theodore G. Schurr, Andreas M. Kogelnik, Kirsi Huoponen,
and Douglas C.
Wallace. 2000. mtDNA Variation in the South African Kung and Khwe- and
Relationship to Other African Populations. American Journal of Human
Sherburne. 1978. Historical Demography. In Handbook of North American
California. Robert F. Heizer ed. Washington D.C.: Government Printing
Warren L. 1986. Handbook of North American Indians, Vol. 11: Great Basin.
D.C.: Government Printing Office.
Frederica. 1975. Matrilineal Kin Groups in Northwestern North America. In Volume
Proceedings: Northern Athapaskan Conference, 1971. A. McFadyen Clark, ed.
Museum of Man. Mercury Series. Ethnology Service Papers 27. Ottawa.
D. 2000 The Settlement of the Americas: A New Prehistory. Basic Books: New
1983. Their Number Became Thinned: Native American Population Dynamics in
North America. Knoxville: University of Tennessee Press.
Peter, and Simon Tavare. 1995. Coalescents and Genealogical Structure Under
Annual Review of Genetics, 29:401-421.
D., D. Andrew Merriwether, Douglas E. Crews, and Robert E. Ferrell. 1996.
in the Yanomami: Evidence for Additional New World Founding Lineages.
Journal of Human Genetics, 59:213-225.
1988. Trail of Tears: The Rise and Fall of the Cherokee Nation. New York:
V., and Joyce Marcus. 1994. Early Formative Pottery of the Valley of Oaxaca,
Memoirs of the Museum of Anthropology, University of Michigan, No. 27.
Rosalind Harding, Antonio Torroni, and Hans-Jurgen Bandelt. 1996. Origin and
Native American mtDNA Variation: A Reappraisal. American Journal of Human
1998. Calibrating the molecular clock. Science, 279:28-29.
1978. A Further Note on Pidgin English. International Journal of American
1996. Introduction. In Handbook of North American Indians, Vol. 17:
ed. Washington D.C.: Government Printing Office.
Joseph H. 1987. Language in the Americas. Stanford University Press, California.
J.H., C.G. Turner II, and S.L. Zegura. 1986. The Settlement of the Americas: A
the Linguistic, Dental, and Genetic Evidence. Current Anthropology,
editor. 1992. A Complex Culture of the British Columbia Plateau: Traditional
Resource Use. Vancouver: UBC Press.
1981. Dogrib. In Handbook of North American Indians, Vol. 6: Subarctic. June
Washington D.C.: Government Printing Office. Pp. 291-309.
A., Joel Wallman, Don J. Melnick. 1998. The Effects of Social Structure,
Structure, and Population Size on the Evolution of Mitochondrial DNA: II.
Clocks and the Lineage Sorting Period. Journal of Molecular Evolution,
R. 1990. Gene Genealogies and the Coalescent Process. Oxford Surveys in
2002. Old World Infectious Diseases in the Plateau Area of North America during
Protohistoric: Rethinking Our Understanding of the “Contact” in the Plateau. In
Frederika. 1997. Molecular Analysis of Ancient Native American DNA From Western
Nevada Historical Society Quarterly, 40(1):85-96.
Frederika, and David Glenn Smith. 2001. American Journal of Physical
Tatiana, Stephen L. Zegura, Jennifer Vuturo-Brady, Olga Posukh, Ludmila Osipova,
Francine Romero, Jeffery C. Long, Shinji Harihara, Feng Jin, Bumbein
Tudevdagva Gerelsaikhan, Keiichi Omoto, and Michael F. Hammer. 1997. Y
Markers and Trans-Bering Strait Dispersals. American Journal of Physical
S.L. Zegura, O. Posukh, L. Osipova, A. Bergen, J. Long, D. Goldman, W. Klitz,
S. Harihara, P.
de Knijff, V. Wiebe, R.C. Griffiths, A.R. Templeton, and M.F. Hammer. 1999.
Source(s) of New World Y-Chromosome Founder Haplotypes. American
Human Genetics, 64:817-831.
H. 2000. The Chaco Meridian: Centers of Political Power in the Ancient
Walnut Creek, CA: AltaMira Press.
1971. The Apportionment of Human Diversity. In Evolutionary Biology, Vol.
et al., eds. Pp. 381-398. New York: Appleton-Century-Crofts.
G., and David Glenn Smith. 1996. Distribution of Four Founding mtDNA
Among Native North Americans. American Journal of Physical Anthropology,
Scott. 2000. Genes, Tribes, and African History. Current Anthropology,
1938. Blood groups and ageusia in Indians of Montana and Alberta. American
Physical Anthropology, 24:81-89.
and H.F. Schrader. 1933. Blood grouping among the “Blackfeet” and “Blood”
American Indians. Journal of Immunology 25:15-163.
Andrew, Francisco Rothhammer, and Robert E. Ferrell. 1995. Distribution of
Founding Lineage Haplotypes in Native Americans Suggests a Single Wave of
the New World. American Journal of Physical Anthropology, 98:411-430.
Joanna L., and L. Luca Cavalli-Sforza. 1997. Multilocus Genotypes, a Tree of
and Human Evolutionary History. American Journal of Human Genetics,
Kyle. 1997. The Spirit Cave Mummy: Coprolite Investigations. Nevada
I. Goddard, R.M. Bateman, W.A. Di Michele, V.A. Funk, W.J. Kress, R. Mooi,
Cannell. 1989. Genes and Tongues. Science, 243:1651.
M.G. Hayes, and S.W. Carlyle. 2000. Spatial and Temporal Stability of mtDNA
Frequencies in Native North America. In Human Biology, 72(1):15-34.
E. 1983. The Apachean Culture Pattern and Its Origins. In Handbook of North
Indians, Vol. 10: The Southwest. Edited by Alfonso Ortiz. Washington D.C.:
D.M., and Michael A. Charleston. 1990. Reconciled Trees and Incongruent Gene
Trees. DIMACS Series in Discrete Mathematics and Theoretical Computer
Vol. 00: 1-14.
Pamilo, P., M.
Nei. 1998. Relationships Between Gene Trees and Species Trees. Molecular
Parsons, T., D.
Muniec, and K. Sullivan. 1997. A high observed substitution rate in the human
control region. Nature Genetics, 15:363-68.
O. Semino, G. Passarino, A.S. Santachiara-Benerecetti, I. Dupanloup, A.
Excoffier. 1997. Human Genetic Affinities for Y-Chromosome P49a,f/TaqI
Correspondence with Linguistics. American Journal of Human Genetics,
1995. A perilous but necessary search: Archaeology and European Identities.
and archaeology: Scottish Archaeological Forum. Edited by J. Atkinson and J.
35-58. Glasgow: Cruithne Press.
I. 1985. Japanese Wrecks, Iron Tools, and Prehistoric Indians of the Northwest
Arctic Anthropology, 22(2):7-15.
Rogers, A., and
L. Jorde. 1995. Genetic Evidence on Modern Human Origins. Human Biology,
1986. A Guide to the World’s Languages. Vol 1. Stanford: Stanford
1994. Linguistic Evidence for the Peopling of the Americas. In Methods and
Investigating the Peopling of the Americas, Bonnichsen and Steele editors.
Center for the
Study of the
First Americans, Corvallis: Oregon. Pp. 177-188.
Fabricio R., Arpita Pandya, Chris Tyler-Smith, Sergio D.J. Pena, Moses
Leonard, Ludmila Osipova, Michael H. Crawford, and R. John Mitchell. 1999. The
Siberian Origin for Native American Y Chromosomes. American Journal of Human
Theodore G., Scott W. Ballinger, Yik-Yuen Gan, Judith A. Hodge, D. Andrew
Dale N. Lawrence, William C. Knowler, Kenneth M. Weiss, and Douglas C.
Amerindian Mitochondrial DNAs Have Rare Asian Mutations at High
Suggesting They Derived from Four Primary Maternal Lineages. American Journal
Theodore G., Rem I. Sukernik, Yelena B. Starikovskaya, and Douglas C. Wallace.
DNA Variation in Koryaks and Itel’men: Population Replacement in the Okhotsk
Sea Region During the Neolithic. American Journal of Physical
Helen. 1998. Yakima and Neighboring Groups. In Handbook of North American
Vol. 12: The Plateau. Deward E. Walker, Jr., ed. Washington D.C.: Government
Rosaria, Fulvio Cruciani, Piero Santolamazza, Patrizia Malaspina, Antonio
Sellitto, Barbara Arredi, Giovanni Destro-Bisol, Gianfranco De Stefano, Olga
Martinez-Labarga, David Modiano, Gianfranco Biondi, Pedro Moral, Antonel
Wallace, and Andrea Novelletto. 1999. Combined Use of Biallelic and
Polymorphisms to Infer Affinities among African Populations. American
Human Genetics, 65:829-846.
Glenn, Ripan S. Malhi, Jason Eshleman, Joseph G. Lorenz, and Frederika A.
Distribution of mtDNA Haplogroup X Among Native North Americans.
Journal of Physical Anthropology, 110:271-284.
Theodore. 1998. Cayuse, Umatilla, and Walla Walla. In Handbook of North
Vol. 12: The Plateau. Deward E. Walker, Jr., ed. Washington D.C.: Government
R. 1993. The “Eve” Hypotheses: A Genetic Critique and Reanalysis. American
T.G. Schurr, C-C Yang, E.J.E. Szathmary, R.C. Williams, M.S. Shanfield, G.A.
Troup, et al.
1990. Native American Mitochondrial DNA Analysis Indicates that the Amerind
Populations Were Founded by Two Independent Migrations. Genetics,
T.G. Schurr, M.F. Cabell, M.D. Brown, J.V. Neel, M. Larson, D.G. Smith, C.M.
Vullo, and D.C.
Wallace. 1993. Asian Affinities and Continental Radiation of the Four Founding
mtDNAs. American Journal of Human Genetics, 53:563-590.
W. 1984. Exploration and Contact History of Western Alaska. In Handbook of
American Indians, Vol. 5: The Arctic. David Damas, ed. Washington D.C.:
E., Jr. 1972. The Emergent Native Americans. Boston: Little, Brown and
E., Jr. 1990. A Study of CRUIR Enrollment and Population. General Council
and Board of
Trustees of the Confederated Tribes of the Umatilla Indian Reservation. Mission:
E., Jr. 1998. Introduction. In Handbook of North American Indians, Vol. 12:
Plateau. Deward E. Walker, Jr., ed. Washington D.C.: Government Printing
Alan Redd, Diana Valencia, Barbara Frazier, and Svante Paabo. 1993. Genetic and
Differentiation in the Americas. Proceedings of the National Acadamey of
Elizabeth, Peter Forster, Martin Richards, and Hans-Jurgen Bandelt. 1997.
Footprints of Human Expansions in Africa. American Journal of Human
1994. American Origins. Procession of the National Academy of Science,
2000. Cavalli-Sforza Laboratory, Stanford University Web Page.
Http://126.96.36.199/eurasia/htdocs/anthgen.html Accessed July 17, 2000.
Milford. 1999. Paleoanthropology, 2