Human Biology

Human Biology
Volume 75, Number 6, December 2003

CONTENTS

Articles

    Colantonio, Sonia.
    Lasker, Gabriel Ward.
    Kaplan, Bernice A.
    Fuster, Vicente.
  • Use of Surname Models in Human Population Biology: A Review of Recent Developments
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    Subject Headings:
    • Human population genetics -- Mathematical models.
    • Names, Personal -- Statistics.
    • Kinship -- Statistical methods.
    Abstract:
      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.
    Keywords:
      surnames, isonymy, inbreeding, population structure
    Rubicz, Rohina.
    Schurr, Theodore G.
    Crawford, Michael H., 1939-
  • Mitochondrial DNA Variation and the Origins of the Aleuts
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    Subject Headings:
    • Aleuts -- Origin.
    • Mitochondrial DNA -- Analysis.
    • Indians of North America -- Migrations.
    Abstract:
      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.
    Keywords:
      native Americans, Siberians, peopling of Americas, mtDNA, haplogroups, sequences
    Bulaeva, K. B. (Kazima Bagdadovna)
    Jorde, Lynn B.
    Ostler, Christopher.
    Watkins, Scott.
    Bulayev, Oleg.
    Harpending, Henry.
  • Genetics and Population History of Caucasus Populations
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    Subject Headings:
    • Human genetics -- Variation -- Russia -- Dagestan.
    • Mitochondrial DNA -- Analysis.
    • Genetic polymorphisms -- Analysis.
    • Human beings -- Migrations.
    Abstract:
      We describe aspects of genetic diversity in several ethnic populations of the Caucasus Mountains of Daghestan using mitochondrial DNA sequences and a sample of 100 polymorphic Alu insertion loci. The mitochondrial 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 undergone more genetic drift than most other groups since the dispersal of modern humans. Genetic differences among these populations are not large; instead, they are of the same order as distances among populations of Europe. We compare two methods of inference about the demography of ancient colonizing populations from Africa, one based on conventional FST statistics and one based on mean Alu insertion frequencies. The two approaches agree reasonably well if we assume that there was demographic growth in Africa before the diaspora of ancestors of contemporary regional human groups outside Africa.
    Keywords:
      Daghestan, alu insertion polymorphism, mtDNA, population structure
    Latini, Veronica.
    Vona, Giuseppe.
    Ristaldi, Maria Serafina.
    Marongiu, Maria Franca.
    Memmì, Marc.
    Varesi, Laurent.
    Vacca, Lucia.
  • Beta-Globin Gene Cluster Haplotypes in the Corsican and Sardinian Populations
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    Subject Headings:
    • Human genetics -- Variation -- France -- Corsica.
    • Human genetics -- Variation -- Italy -- Sardinia.
    • Genetic polymorphisms -- Analysis.
    Abstract:
      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.
    Keywords:
      β -globin cluster gene, RFLP DNA polymorphisms, haplotypes, Corsica, Sardinia
    Vishwanathan, H.
    Edwin, Deepa.
    Usharani, M. V.
    Majumder, Partha P.
  • Insertion/Deletion Polymorphisms in Tribal Populations of Southern India and Their Possible Evolutionary Implications
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    Subject Headings:
    • Human genetics -- Variation -- India -- Nilgiri Hills.
    • Genetic polymorphisms -- Analysis.
    • Human population genetics -- India.
    Abstract:
      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.
    Keywords:
      India, tribes, insertion/deletion polymorphism, human genome diversity
    Vargas-Alarcón, Gilberto.
    Hernández-Pacheco, Guadalupe.
    Rodríguez-Pérez, José Manuel.
    Pérez-Hernández, Nonanzit.
    Pavón, Zinnia.
    Fragoso, José Manuel.
    Juarez-Cedillo, Teresa.
    Villarreal-Garza, Cynthia.
    Granados, Julio.
  • Angiotensin-Converting Enzyme Gene (ACE) Insertion/Deletion Polymorphism in Mexican Populations
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    Subject Headings:
    • Human genetics -- Variation -- Mexico.
    • Genetic polymorphisms -- Analysis.
    • Cardiovascular system -- Diseases -- Genetic aspects.
    Abstract:
      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.
    Keywords:
      angiotensin-converting enzyme, Mexican populations, polymorphism, Amerindians
    Kemkes-Grottenthaler, Ariane.
  • God, Faith, and Death: The Impact of Biological and Religious Correlates on Mortality
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    Subject Headings:
    • Human reproduction -- Religious aspects -- Christianity -- History.
    • Family demography -- Germany -- History.
    • Germany -- Statistics, Vital -- History.
    Abstract:
      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.
    Keywords:
      historical demography, differential mortality, longevity, religion
    Grant, Valerie J., 1937-
    Yang, Sarina.
  • Achieving Women and Declining Sex Ratios
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    Subject Headings:
    • Sex ratio.
    • Sex determination, Genetic.
    • Dominance (Psychology)
    Abstract:
      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.
    Keywords:
      maternal dominance hypothesis, biography, personality, family structure, occupation
    Branco, Claudia C.
    Mota-Vieira, Luisa.
  • Population Structure of São Miguel Island, Azores: A Surname Study
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    Subject Headings:
    • Names, Personal -- Azores -- São Miguel Island -- Statistics.
    • Human genetics -- Azores -- São Miguel Island -- Mathematical models.
    • Consanguinity -- Azores -- São Miguel Island.
    Abstract:
      The knowledge of a population structure may constitute a powerful tool for mapping genes underlying susceptibility to Mendelian and complex diseases. To obtain a better understanding of the population structure 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 subscribers. The frequency of the different surnames was used to calculate the following parameters: isonymy (I), random component of inbreeding (FST), genetic diversity according to Fisher (α), migration rate according to Karlin- McGregor (υ) and Nei' s genetic distance. Eleven localities were selected, according 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, respectively. These figures demonstrate the effective isolation of these two small places, which are located at opposite ends of Sao Miguel Island. Salga, Achada, and Sete Cidades present the lowest values of Fisher' αs, indicating less genetic diversity. In contrast, the capital, Ponta Delgada, presents the highest value of α (78.13), indicating more genetic diversity. Our data indicate that the clustering of the localities corresponds to the geographic features of the island, where localities close together tend to share similar surnames. In conclusion, the population of Sao Miguel is relatively homogeneous and may constitute an ideal model for genetic mapping studies.
    Keywords:
      population structure, isonymy, inbreeding, surnames and isolated population

Brief Communication

    Robledo, Renato.
    Scheinfeldt, Laura.
    Merriwether, D. Andrew.
    Thompson, Françoise.
    Friedlaender, Jonathan Scott.
  • A 9.1-Kb Insertion/Deletion Polymorphism Suggests a Common Pattern of Genetic Diversity in Island Melanesia
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    Subject Headings:
    • Human genetics -- Variation -- Melanesia.
    • Genetic polymorphisms -- Analysis.
    • Anthropological linguistics -- Melanesia.
    Abstract:
      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.
    Keywords:
      chromosome 22, genome diversity, insertion/deletion polymorphism, language groups, melanesian populations

Book Review

    Sievert, Lynnette Leidy.
  • Female Fertility and the Body Fat Connection (review)
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    Subject Headings:
    • Frisch, Rose E. (Rose Epstein) Female fertility and the body fat connection.
    • Fertility, Human.

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