Since 1985, when a bibliography concerning studies on
surnames and genetic structure appeared, the number of publications
on this subject has increased a thousandfold. New topics and uses have
been added, but largegaps in knowledge remain. Only studies on isonymy
in cities of nation states for recent times are well covered, and most
studies are on populations that were selected because they are isolated
and not because they are typical. This review, although not exhaustive,
covers the literature published since 1985.
surnames, isonymy, inbreeding, population structure
Schurr, Theodore G.
Crawford, Michael H., 1939-
The mitochondrial DNA (mtDNA) variation in 179 Aleuts from
five different islands (Atka, Unalaska, Umnak, St. Paul, and St. George)
and Anchorage was analyzed to better understand the origins of Aleuts
and their role in the peopling of the Americas. Mitochondrial DNA
samples were characterized using polymerase chain reaction amplification,
restriction fragment length polymorphism analysis, and direct sequencing
of the first hypervariable segment (HVS-I) of the control region. This
study showed that Aleut mtDNAs belonged to two of the four haplogroups
(A and D) common among Native Americans. Haplogroup D
occurred at a very high frequency in
Aleuts, and this, along with their unique HVS-I sequences, distinguished
them from Eskimos, Athapaskan Indians, and other northern Amerindian
populations. While sharing several control region sequences (CIR11, CHU14,
CIR60, and CIR61) with other circumarctic populations, Aleuts lacked
haplogroup A mtDNAs having the 16265G mutation that are specific to
Eskimo populations. R-matrix and median network analyses indicated
that Aleuts were closest genetically to Chukotkan (Chukchi and Siberian
Eskimos) rather than to Native American or Kamchatkan populations
(Koryaks and Itel'men). Dating of the Beringian branch of haplogroup
A (16192T) suggested that populations ancestral to the Aleuts,
Eskimos, and Athapaskan Indians emerged approximately 13,120 years ago,
while Aleut-specific A and D sublineages were dated at
6539 ± 3511 and 6035 ± 2885 years, respectively. Our findings
support the archaeologically based hypothesis that ancestral Aleuts
crossed the Bering Land Bridge or Beringian platform and entered the
Aleutian Islands from the east, rather than island hopping from Kamchatka
into the western Aleutians. Furthermore, the Aleut migration most likely
represents a separate event from those responsible for peopling the
remainder of the Americas, meaning that the New World was colonized
through multiple migrations.
native Americans, Siberians, peopling of Americas, mtDNA,
Bulaeva, K. B. (Kazima Bagdadovna)
Jorde, Lynn B.
Human genetics -- Variation -- Russia -- Dagestan.
Mitochondrial DNA -- Analysis.
Genetic polymorphisms -- Analysis.
Human beings -- Migrations.
We describe aspects of genetic diversity in several
of the Caucasus Mountains of Daghestan using mitochondrial DNA
sequences and a sample of 100 polymorphic Alu insertion loci. The
DNA (mtDNA) sequences are like those of Europe. Principal coordinates
and nearest neighbor statistics show that there is little detectable
structure in the distances among populations computed from mtDNA. The
Alu frequencies of the Caucasus populations suggest that they have
more genetic drift than most other groups since the dispersal of modern
humans. Genetic differences among these populations are not large;
they are of the same order as distances among populations of Europe. We
compare two methods of inference about the demography of ancient
populations from Africa, one based on conventional
FST statistics and one
based on mean Alu insertion frequencies. The two approaches agree
well if we assume that there was demographic growth in Africa before
the diaspora of ancestors of contemporary regional human groups outside
Daghestan, alu insertion polymorphism, mtDNA, population
Ristaldi, Maria Serafina.
Marongiu, Maria Franca.
The distribution of β -globin cluster haplotypes
has been studied in the populations of Corsica (France) and Sardinia
(Italy). The analysis was carried out using five restriction
fragment length polymorphism markers on chromosome 11 inside the
β-globin cluster using the restriction enzymes HincII and
HindIII. The results show a remarkable heterogeneity within the
two islands. However, the presence of rare haplotypes common to the most
conservative areas (Nuoro and Corte) of the two islands is particularly
interesting. These data support the hypothesis of a common origin of
the populations of Sardinia and Corsica during the middle and upper
Paleolithic periods and could be interpreted as a founder effect.
β -globin cluster gene, RFLP DNA polymorphisms, haplotypes,
Usharani, M. V.
Majumder, Partha P.
Human genetics -- Variation -- India -- Nilgiri Hills.
Genetic polymorphisms -- Analysis.
Human population genetics -- India.
India has the unique distinction of having perhaps the
largest diversities, both biological and cultural. The Nilgiri Hills
of southern India, a home for several tribal pockets representing
different genetic isolates, provides a genetic wealth to understand
human evolution. We have analyzed eight widely distributed polymorphic
insertion/deletion loci (AluAPO, AluACE, AluD1,
AluPLAT, AluPV92, AluFXIIIB, CD4 del and
mtNUC) in 250 unrelated individuals from five tribal populations
(Badaga, Irula, Kota, Kurumba, and Toda). All loci were highly polymorphic
except the CD4 del locus, at which the deletion allele was fixed in
Kotas and Kurumbas. The levels of average heterozygosities were found to
be high in all the populations. In most populations, they were also higher
than those predicted by the island model of population structure. The
gene diversity (GST = 8.3%) was found to be higher
than that in populations of most global regions with the exception of
Africa. It is clear from the present study that drift effects could
have accentuated the process of genetic differentiation of the tribal
populations. The possibility of an early demographic expansion of modern
humans within south India also cannot be ruled out.
India, tribes, insertion/deletion polymorphism, human genome
Rodríguez-Pérez, José Manuel.
Fragoso, José Manuel.
Cardiovascular system -- Diseases -- Genetic aspects.
The angiotensin-converting enzyme gene (ACE)
insertion/deletion polymorphism was determined in 211 Mexican healthy
individuals belonging to different Mexican ethnic groups (98 Mestizos,
64 Teenek, and 49 Nahuas). ACE polymorphism differed among Mexicans
with a high frequency of the D allele and the D/D genotype
in Mexican Mestizos. The D/D genotype was absent in Teenek and
present in only one Nahua individual (2.0%). When comparisons were made,
we observed that Caucasian, African, and Asian populations presented the
highest frequencies of the D allele, whereas Amerindian (Teenek
and Pima) and Australian Aboriginals showed the highest frequencies
of the I allele. The distribution of I/D genotype was
heterogeneous in all populations: Australian Aboriginals presented
the lowest frequency (4.9%), whereas Nahuas presented the highest
(73.4%). The present study shows the frequencies of a polymorphism not
analyzed previously in Mexican populations and establishes that this
polymorphism distinguishes the Amerindian populations of other groups. On
the other hand, since ACE alleles have been associated with genetic
susceptibility to developing cardiovascular diseases and hypertension,
knowledge of the distribution of these alleles could help to define the
true significance of ACE polymorphism as a genetic susceptibility
marker in the Amerindian populations.
Human reproduction -- Religious aspects -- Christianity -- History.
Family demography -- Germany -- History.
Germany -- Statistics, Vital -- History.
Marked denominational mortality differentials have been
documented for various time periods and geographic locations. From a
historical perspective, death rates among Catholics are often found to
be higher than those among Protestants or Jews. Using a conceptual model
based on the life history approach, biomedical and sociocultural factors
of causation are extrapolated. In total, 5513 historical entries from
family reconstitution were available. Selection of data was guided by the
inclusion of information about religious affiliation. Only married couples
with children as well as single mothers were considered. Of these, 1855
entries were of Roman Catholic (C), 1143 of Lutheran/Protestant (L/P),
and 609 of Reformed Calvinist (R) denomination. With a focus on both
adult and subadult mortality, this study attempted to document that the
cultural patterns associated with religious behavior are merely proximate
determinants, while the ultimate causes are biological in nature. Survival
prospects depended on demographic and familial characteristics such
as age-at-first-birth, spacing and stopping behavior, infant care,
and targeted sibship size, rather than religiosity.
Professionally written biographies of 353 women selected
for inclusion in two volumes of a dictionary of biographywere analyzed
separately for data on family structure, occupation, and personality
characteristics. Findings from Volume 4 (1921-1940) were similar to those
from Volume 5 (1941-1960). Results showed that 55.2% of women biographees
had no children. They were either unmarried or, if married, childless. Of
those who did have children, biographees had a significantly high ratio
of sons to daughters compared with the norm (0.514) (Vol. 4: males =
106, females = 76; Vol. 5: males = 115, females= 80; totals: males =
221, females = 156;
χ2 = 7.87; p = 0.005). These data, interpreted according
to the maternal dominance hypothesis (Grant 1998) and set in the context
of increased workforce participation by women and declining fertility,
suggest another possible explanation for the contemporary decline in
the secondary sex ratio.
maternal dominance hypothesis, biography, personality, family
Names, Personal -- Azores -- São Miguel Island -- Statistics.
Human genetics -- Azores -- São Miguel Island -- Mathematical models.
Consanguinity -- Azores -- São Miguel Island.
The knowledge of a population structure may constitute
tool for mapping genes underlying susceptibility to Mendelian and
complex diseases. To obtain a better understanding of the population
of Sao Miguel Island (Azorean Archipelago, Portugal), we carried out a
surname survey using the surnames listed in the most recent telephone book
(2001). We identified 1315 different surnames in a total of 27,621
The frequency of the different surnames was used to calculate the
following parameters: isonymy (I), random component of inbreeding
genetic diversity according to Fisher (α), migration rate according
McGregor (υ) and Nei' s genetic distance. Eleven localities were selected,
to population size and geographic distribution, for analysis using the
above parameters. Our results show that 51% of Salga' s population and 52%
of Sete Cidades' s population are represented by six and eight surnames,
These figures demonstrate the effective isolation of these two
small places, which are located at opposite ends of Sao Miguel
Achada, and Sete Cidades present the lowest values of Fisher' αs, indicating
less genetic diversity. In contrast, the capital, Ponta Delgada,
highest value of α (78.13), indicating more genetic diversity. Our data
that the clustering of the localities corresponds to the geographic
of the island, where localities close together tend to share similar
surnames. In conclusion, the population of Sao Miguel is relatively
and may constitute an ideal model for genetic mapping studies.
population structure, isonymy, inbreeding, surnames and
Merriwether, D. Andrew.
Friedlaender, Jonathan Scott.
Earlier reports suggest a distinct pattern of genetic
variation linked to both language and geographic distance in Island
Melanesia. Inland Papuan-speaking populations from different islands tend
to share one allelic profile, while shore-based or more cosmopolitan
populations share another, related to Southeast Asian influence over
the past 3000 years. In the present paper, we report the genotypes
and allele frequencies of an informative 9.1-thousand-base-pairs (kb)
insertion/deletion polymorphism in 19 populations living in Island
Melanesia. The populations studied inhabit the islands of New Britain,
New Ireland, New Hanover, and Mussau in the Bismarck Archipelago,
and speak either Austronesian or Papuan languages. We also include for
reference a collection from New Guinea and Bougainville. The data show a
marked fluctuation in the allele frequency among the different isolates,
with the 9.1-kb(-) allele frequency ranging from 0.67 to 0.98. The
deletion allele reaches fixation in some Papuan-speaking interior
populations of New Britain, as well as in the interiors of New Guinea and
Bougainville. However, certain inland Austronesian-speaking populations
also share a similar high frequency of the deletion. Our data suggest that
language distinctions are generally, but not invariably, indicative of
diverse allelic patterns in this complex region, where inland groups on
large islands tend to be often distinctive from shore-based populations.
chromosome 22, genome diversity, insertion/deletion
polymorphism, language groups, melanesian populations