Human Biology

Human Biology
Volume 77, Number 4, August 2005



    Williams, Bobby Joe, 1930-
  • Kin Selection in Human Populations: Theory Reconsidered
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    Subject Headings:
    • Altruism.
    • Behavior evolution.
      Past considerations of kin selection have assumed a dyadic fitness exchange relationship between altruist and recipient. This approach does not account for all alleles affected by altruistic behavior. This can be corrected by focusing on matings rather than on individuals. I present a model that tries to account for fitness changes resulting from altruistic acts, not only for the altruist and recipient but also for their spouses, in an evolving population. Results from this model indicate that Hamilton's rule fails to predict when the altruism allele will increase in frequency and, more important, suggest that kin selection can, at most, account for low levels of a gene for altruism but only if fairly extreme conditions are met.
      Kin Selection, Group Selection, Altruism, Inclusive Fitness, Hamilton's Rule.
    Gloria-Bottini, F.
    Cosmi, E.
    Nicotra, Maria.
    Cosmi, Ermelando V., 1937-
    Bottini, E.
  • Is Delayed Childbearing Changing Gene Frequencies in Western Populations?
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    Subject Headings:
    • Human reproduction -- Age factors -- Developed countries.
    • Gene frequency.
    • Genetic polymorphisms -- Developed countries.
      Experimental data and clinical observations suggest that delaying childbearing influences the biology of the mother-fetus relationship, with a negative effect on fetal development and predisposition to severe diseases such as type 1 diabetes. We reason that advanced maternal age may influence intrauterine selection, favoring genotypes that are more adapted to the intrauterine environment of less young women. In the present study we have investigated the relationship of maternal age to HP genotype and PGM1-Rh area (chromosome 1) that have been previously found to be associated with fertility and developmental parameters. HP phenotype was determined in 679 consecutive puerperae from the population of central Italy. PGM1 phenotype and Rh C phenotype were determined in 222 puerperae and 200 newborns. The HP 1,1 phenotype decreases and the HP 2,2 phenotype increases with maternal age. The proportion of phenotypes carrying both the Rh C and PGM1*1 alleles is much higher in puerperae older than 36 years than in puerperae of age 22 years. The frequency of the PGM1*1–Rh C haplotype increases and the frequency of the PGM1*2–Rh C haplotype decreases with maternal age. The changes in these genetic systems with advancing maternal age are similar in mothers and newborns. The delay of childbearing age, associated in Western countries with the fertility transition in addition to detrimental effects on intrauterine development and increased susceptibility to severe disorders, could bring about changes in the genetic composition of a population.
      Fertility Transition, Maternal Age, Genetic Polymorphism, PGM1, Rh, HP.
    Izagirre, Neskuts.
    Alzualde, Ainhoa.
    Alonso, Santos.
    Paz, Leire.
    Alonso, Antonio.
    Rua, Concepción de la.
  • Rare Haplotypes in mtDNA: Applications in the Analysis of Biosocial Aspects of Past Human Populations
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    Subject Headings:
    • DNA, Fossil -- Spain -- País Vasco -- Analysis.
    • Mitochondrial DNA -- Spain -- País Vasco -- Analysis.
    • Basques -- Kinship -- Spain -- País Vasco.
      We report on the use of rare mutations to tackle biosocial questions such as kinship and differential burial practices from past human populations. To do this, we have inferred nucleotide position 73 of HVS-II in individuals classified as belonging to haplogroup H from 76 human dental samples from the necropolis of Aldaieta (Basque Country, Spain, 6th–7th century) by means of PCR and restriction enzyme tests. The same analysis has been performed for 146 extant individuals from the northern Iberian peninsula. A combination of haplotype H and 73G in HVS-II, rare in extant populations (0.5–3%), has been found at a frequency of 20% in the ancient population of Aldaieta. These data can be explained in terms of the existence of different burial practices associated with a variety of factors, mainly social status and kinship. This hypothesis is also supported by archeological data. These results indicate that caution should be taken when making phylogenetic inferences from extinct populations, because an uncharacterized kinship can significantly bias allele frequencies.
      Ancient DNA, Mitochondrial DNA, Rare Haplotypes, Kinship, Bioanthropology, Basque Population, HVS-II.
    Prista, António.
    Maia, A. J. R.
    Saranga, S.
    Nhantumbo, L.
    Marques, A. T.
    Beunen, Gaston.
  • Somatic Growth of a School-Aged Population from Mozambique: Trend and Biosocial Meaning
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    Subject Headings:
    • Children -- Mozambique -- Maputo -- Growth.
    • Children -- Mozambique -- Maputo -- Social conditions.
    • Children -- Mozambique -- Maputo -- Economic conditions.
      A cross-sectional study of children and adolescents from Maputo, Mozambique, was carried out in order to (1) describe the current growth status of children and adolescents from Maputo, (2) evaluate the relative status of the growth and development of youth from Maputo compared to WHO international standards, (3) assess the relationship between socioeconomic status and growth and development, and (4) assess the impact that the civil war (1980–1992) had on the health status of children and adolescents living in Maputo. The sample is composed of 2,271 subjects (1,098 boys and 1,173 girls), age 6 to 17 years. Somatic measures included height, weight, and skinfold thicknesses from which nutritional indicators were calculated and plotted against WHO norms. Subjects were divided into three groups according to their socioeconomic status. Data from a cross-sectional study done in the same areas in 1992 was used to analyze the impact of war. Beginning at 11 years, Maputo students are always shorter and weigh less than the WHO standards. BMI in boys from 11 years and in girls from 12 years is somewhat lower than the WHO norms. A social gradient is evident, favoring those students with higher socioeconomic status. Height, weight, BMI, fat mass, and lean body mass are always higher in the 1999 sample than in the 1992 study. We conclude that (1) there is a substantial difference in height and weight values of Maputo children and adolescents compared to WHO standards; (2) there is a clear advantage of being of higher socioeconomic status; (3) socioeconomic status, hygiene, and sanitation are the main factors responsible for the greater values of the 1999 sample; and (4) differences between the stature of students with higher socioeconomic status and the WHO norms are almost irrelevant. This last aspect reveals the importance of socioeconomic factors in determining the growth process, implying its importance in facilitating the "expression" of the genotypes available in the population.
      growth, Africa, Children, Mozambique.
    Klaric, Irena Martinovic.
    Pericic, Marijana.
    Lauc, Lovorka Barac.
    Janicijevic, Branka.
    Kubat, Milovan.
    Pavicic, Dino.
    Rudan, Igor.
    Wang, Ning.
    Jin, Lin.
    Chakraborty, Ranajit, 1946-
    Deka, Ranjan.
    Rudan, Pavao.
  • Genetic Variation at Nine Short Tandem Repeat Loci Among Islanders of the Eastern Adriatic Coast of Croatia
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    Subject Headings:
    • Human population genetics -- Croatia -- Adriatic Coast.
      We have analyzed the extent of genetic variation at nine autosomal short tandem repeat loci (D3S1358, VWA, FGA, TH01, TPOX, CSF1PO, D5S818, D13S317, D7S820) among six populations from Croatia: five distributed in the islands of the eastern Adriatic coast and one from the mainland. The purpose is to investigate the usefulness of these loci in detecting regional genetic differentiation in the studied populations. Significant heterogeneity among the island and mainland populations is revealed in the distributions of allele frequencies; however, the absolute magnitude of the coefficient of gene differentiation is small but significant. The summary measures of genetic variation, namely, heterozygosity, number of alleles, and allele size variance, do not indicate reduced genetic variation in the island populations compared to the mainland population. In contrast to the two measures of genetic variation, allele size variance and within-locus heterozygosity, the imbalance index (β) indicates evidence of recent expansion of population sizes in all islands and in the mainland. High mutation rates of the studied loci together with local drift effects are likely explanations for interisland genetic variation and the observed lack of reduced genetic diversity among the island populations.
      short tandem repeats, genetic variation, D3S1358, VWA, FGA, TH01, TPOX, CSF1PO, D5S818, D13S317, D7S820, Eastern Adriatic Islands, Dalmatian Islands, Croatia.
    Al-Bustan, Suzanne A.
    Alnaqeeb, Majed A.
    Annice, Babitha G.
    Ibrhim, Ghada.
    Al-Rubaian, Jassem.
    Ahmed, Abdul Hadi.
    Refai, Thanna M.
  • Apolipoprotein E Genotyping Among the Healthy Kuwaiti Population
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    Subject Headings:
    • Apolipoprotein E.
    • Human population genetics -- Kuwait.
      Apolipoproteins (lipid-free) are lipid-binding proteins that circulate in the plasma of human blood and are responsible for the clearance of lipoproteins. Apolipoprotein E (ApoE) is one of the several classes of this protein family. It acts as a ligand for the low-density lipid (LDL) receptors and is important for the clearance of very low-density lipid (VLDL) and chylomicron remnants. The APOE gene locus is polymorphic, with three major known alleles, APOE*3, *4, and *2. We investigated the distribution of the allele frequency of the APOE gene locus and describe here the genetic variation in four Kuwaiti subpopulations: Arab origin (Arabian peninsula), Arab Bedouin tribes, Iranian origin, and the heterogeneous population. We also describe the use of Spreadex gels in resolving the amplified and digested products of the APOE gene locus. DNA was extracted from whole blood and subjected to PCR and then to RFLP analysis. Allele and genotype frequencies were estimated for the total population and for each subpopulation. Statistical analysis showed no difference in the allele frequencies between the four groups. The frequency of APOE*3 in the Kuwaiti population was highest (88.4%) followed by the frequency of APOE*4 (6.5%) and APOE*2 (5.1%). The genotype and allele frequencies obtained for the Kuwaiti population fell within the reported worldwide distribution for the APOE gene locus. Moreover, the results obtained in this study showed no statistical difference (p>0.05) between the APOE allele and genotype frequencies between the subgroups for all six genotypes and three alleles, supporting the assumption of admixture in the Kuwaiti population and that the obtained frequencies were in Hardy-Weinberg equilibrium. Finally, we found that the distribution of the APOE alleles in Kuwait differs somewhat from those reported in other Arab populations, suggesting that the Arabs originating from the Arabian peninsula are different from those of Lebanon, Morocco, and Sudan.
      ApoE, allele frequencies, polymorphisms, Kuwait, Arabs, lipoproteins, Spreadex gels.
    Heckmann, M. I. O.
    Mendes-Junior, C. T.
    Tada, M. S.
    Santos, M. G.
    Cabello, G. M. K.
    Salzano, Francisco M.
    Simões, A. L.
    Engracia, V.
  • CFTR Haplotype Distribution in the Brazilian Western Amazonian Region
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    Subject Headings:
    • Cystic fibrosis gene -- Brazil -- Porto Velho (Rondônia)
    • Human population genetics -- Brazil -- Porto Velho (Rondônia)
      Two hundred twenty-one individuals from four groups located around the Brazilian town of Porto Velho, Rondônia, were studied in relation to four sites located within or near the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The allele frequencies, when considered individually, do not depart markedly from frequencies obtained from other populations of mainly European descent. However, when haplotypes were estimated, two of the groups departed markedly from other Brazilian and non-Brazilian samples. This finding is probably related to the complex multiethnic origin of these groups.
      Cystic Fibrosis, Brazil, Amazon Region, CFTR Gene, D7S23.

Brief Communications

    Gadelha, S. R.
    Alcântara, L. C. J.
    Costa, G. C. S.
    Rios, D. L.
    Galvão-Castro, B.
  • Ethnic Differences in the Distribution of Interleukin-6 Polymorphisms Among Three Brazilian Ethnic Groups
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    Subject Headings:
    • Interleukin-6.
    • Genetic polymorphisms -- Brazil.
    • Human population genetics -- Brazil.
      Polymorphisms in the interleukin-6 promoter region have been associated with diseases. In this study we investigated the -634G/C and -174G/C IL-6 promoter polymorphisms in three Brazilian ethnic groups. We verified that the allele frequencies of the two polymorphisms and haplotype frequencies varied significantly between the populations.
      Interleukin-6, IL-6 gene, polymorphisms, Brazilian Populations.
    Fragoso, José Manuel.
    Rodríguez-Pérez, José Manuel.
    Pérez-Vielma, Nadia.
    Martínez-Rodríguez, Nancy.
    Vargas-Alarcón, Gilberto.
  • β1 Adrenergic Receptor Polymorphisms Arg389Gly and Ser49Gly in the Amerindian and Mestizo Populations of Mexico
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    Subject Headings:
    • Beta adrenoceptors.
    • Genetic polymorphisms -- Mexico.
    • Indians of Mexico.
    • Mestizos -- Mexico.
      The β1 adrenergic receptor genotypes (Ser49Gly and Arg389Gly) were determined in 190 individuals from 3 Mexican populations. Mestizos and Teenek present the highest frequencies for the *Arg allele and the lowest frequencies for the *Gly allele (Arg389Gly) compared to European, Asian, and African populations. Mayos present the highest frequency for the *Gly allele. The knowledge of the distribution of these alleles could help define the significance of these polymorphisms as genetic susceptibility markers in Amerindian populations.
      β1 adrenergic receptor, Mestizos, Teenek, Mayos, Mexican populations.
    Paz-y-Miño Cepeda, César.
    Morillo, Santiago A.
    Celi, Ana P.
    Witte, Tania.
    Muñoz Guijarro, María José.
    Collantes, Juan Carlos.
    Leone, Paola E.
  • CCR5Δ, CCR2-64I, and SDF1-3'A Polymorphisms Related to Resistance to HIV-1 Infection and Disease in the Ecuadoran Population
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    Subject Headings:
    • HIV infections -- Ecuador -- Genetic aspects.
    • HIV infections -- Susceptibility -- Ecuador.
    • Genetic polymorphisms -- Ecuador.
      The aim of this study was to determine the allele frequencies of genetic variants CCR5Δ32, CCR2-64I, and SDF1-3'A (SDF1 801 A), which influence susceptibility to HIV-1 infection. We also investigated the effect of these variants on the general Ecuadoran population and on a group of HIV-infected individuals to determine the frequency of these genetics variants.
      Chemokines, disease prognosis, Ecuadorian population, HIV-1 Infection, CCR5Δ32, CCR2-64I, SDF1-3'A.

Book Reviews

    Bogin, Barry.
  • Methods in Human Growth Research (review)
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    Subject Headings:
    • Hauspie, Roland, ed. Methods in human growth research.
    • Cameron, Noël, ed.
    • Molinari, Luciano, 1944-, ed.
    • Human growth -- Research.
    Monge, Janet M.
  • Patterns of Growth and Development in the Genus Homo (review)
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    Subject Headings:
    • Thompson, J. L. (Jennifer Louise), 1961-, ed. Patterns of growth and development in the genus Homo.
    • Krovitz, Gail E., ed.
    • Nelson, Andrew John, 1960-, ed.
    • Human evolution.
    Kuzawa, Christopher W.
  • Allostasis, Homeostasis, and the Costs of Physiological Adaptation (review)
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    Subject Headings:
    • Schulkin, Jay, ed. Allostasis, homeostasis, and the costs of physiological adaptation.
    • Allostasis.

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