Human Biology

Human Biology 73.3, June 2001


    Manni, Franz.
    Barrai, Italo.
  • Genetic Structures and Linguistic Boundaries in Italy: A Microregional Approach
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    Subject Headings:
    • Human population genetics -- Italy -- Ferrara (Province)
    • Linguistic geography.
    • Ferrara (Italy : Province) -- Languages -- Maps.
      The amount of genetic data (sequences, gene frequencies, and isonymy) available for the Province of Ferrara, Italy, makes this area one of the world's best known. In an effort to infer the underlying demographic processes, we studied the province's population structure by comparing geological, palaeoclimatic, archeological, historical, and linguistic data. This multilevel approach allowed us to date some characteristics of the population structure from prehistoric times to the Roman and Middle Ages, and to detect overlapping biological, cultural, and geographic boundaries. To detect linguistic boundaries within this area we turned pronunciation differences into phonetic notation. We then computed pairwise distances by using methods for multiple genetic sequence analysis, in order to obtain a distance matrix of the overall pronunciation variability. This approach enabled us to test the association among linguistic, geographical, and genetic distance matrices using the same statistical tests. Results indicate that demographic phenomena can be traced in an area as small as the Province of Ferrara and that, on a microregional scale, recent events may have influenced important aspects of the overall genetic variation.
      gene frequencies, surnames, linguistic boundaries
    Tomàs, Carmen.
    Picornell, Antònia.
    Castro, José A.
    Ramon, M. Misericòrdia.
  • Genetic Analyses in Five Western Mediterranean Populations: Variation at Five Tetrameric Short Tandem Repeat Loci
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    Subject Headings:
    • Human population genetics -- Spain -- Balearic Islands.
    • Human population genetics -- Spain -- Valencia.
    • Chuetas.
      A population study of the Balearic (Majorca, Minorca, Ibiza, Chueta) and Valencia populations was carried out using the short tandem repeat loci HUMTH01, D4S243, HUMF13A1, D18S535, and D12S391. All the populations sampled were found to be in Hardy-Weinberg equilibrium for the five markers analyzed. Several statistical analyses showed a clear displacement of the Chueta and Ibiza populations from the other populations sampled. These results are in agreement with those obtained from the analysis of classical markers and mitochondrial DNA restriction fragment length polymorphisms, as well as with the history of these populations. A comparative study performed with other European populations using three of the five markers selected for this study (HUMTH01, HUMF13A1, and D12S391) revealed a clear differentiation only of the Chueta population. We detected a tendency for a west-east clinal distribution in the frequency of the HUMTH01*6 allele in the European and Mediterranean area. This distribution could reflect some of the migratory events that have happened throughout that area's history. The forensic usefulness of these markers can be judged by their highly combined power of discrimination (0.999997).
      STRS, HUMTH01, D4S243, HUMF13A1, D18S535, D12S391, population genetics, Chuetas (majorcan jews), Balearic Islands, Mediterranean populations
    Main, P.
    Attenborough, Robert D.
    Chelvanayagam, G.
    Gao, X.
  • The Peopling of New Guinea: Evidence from Class I Human Leukocyte Antigen
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    Subject Headings:
    • Human population genetics -- New Guinea.
    • HLA histocompatibility antigens.
    • New Guinea -- Emigration and immigration -- History.
      This study utilizes newly developed direct DNA typing methods for human leukocyte antigens (HLA) to provide new information about the peopling of New Guinea. The complete polymorphism of eight Melanesian populations was examined. The groups included were highlanders, northern and southern highlands fringe populations, a Sepik population, northern and southern coastal New Guinea populations, and populations from the Bismarck Archipelago and New Caledonia. The study concluded that, based on HLA and other evidence, Melanesians are likely to have evolved largely from the same ancestral stock as Aboriginal Australians but to have since differentiated. Highlanders are likely to be descendants of earlier migrations who have been isolated for a long period of time. Northern highlands fringe and Sepik populations are likely to share a closer common ancestry but to have differentiated due to long term isolation and the relative proximity to the coast of the Sepik. Southern fringe populations are likely to have a different origin, possibly from the Gulf region, although there may be some admixture with neighboring groups. Coastal populations have a wider range of polymorphisms because of the genetic trail left by later population movement along the coast from Asia that did not reach Australia or remote Oceania. Other polymorphisms found in these populations may have been introduced by the movement of Austronesian-speaking and other more recent groups of people into the Pacific, because they share many polymorphisms with contemporary southeast Asians, Polynesians, and Micronesians that are not found in highlanders or Aboriginal Australians. There is evidence suggestive of later migration to Melanesia from Polynesia and Micronesia.
      major histocompatibility complex, class I human leukocyte antigens, population affinities, genetic distance, Papua New Guinea
    Fernandez Cobo, Mariana.
    Jobes, David V.
    Yanagihara, Richard.
    Nerurkar, Vivek R.
    Yamamura, Yasuhiro.
    Ryschkewitsch, Caroline F.
    Stoner, Gerald L.
  • Reconstructing Population History Using JC Virus: Amerinds, Spanish, and Africans in the Ancestry of Modern Puerto Ricans
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    Subject Headings:
    • Human population genetics -- Puerto Rico.
    • Polyoma virus -- Puerto Rico.
      The roots of the Hispanic populations of the Caribbean Islands and Central and South America go back to three continents of the Old World. In Puerto Rico major genetic contributions have come from (1) Asians in the form of the aboriginal Taino population, an Arawak tribe, present when Columbus arrived on the Island, (2) Europeans, largely Spanish explorers, settlers, government administrators, and soldiers, and (3) Africans who came as part of the slave trade. Since JC virus (JCV) genotypes characteristic of Asia, Europe, and Africa have been identified, and excretion of JCV in urine has been proposed as a marker for human migrations, we sought to characterize the JCV strains present in a Caribbean Hispanic population. We found that the strains of JCV present today in Puerto Rico are those derived from the Old World populations represented there: Types 1B and 4 from Spain, Types 3A, 3B, and 6 from Africa, and Type 2A from Asia. The Type 2A genotype represents the indigenous Taino people. This JCV genotype was represented much more frequently (61%) than would be predicted by the trihybrid model of genetic admixture. This might be attributable to characteristics of JCV Type 2A itself, as well as to the nature of the early relationships between Spanish men and native women. These findings indicate that the JCV strains carried by the Taino Indians can be found in today's Puerto Rican population despite the apparent demise of these people more than two centuries ago. Therefore, molecular characterization of JCV provides a tool to supplement genetic techniques for reconstructing population histories including admixed populations.
      polyomavirus, JC virus, genotypes, Hispanic Americans, migration, genetic admixture
    Cabello, Giselda M. K.
    Cabello, Pedro H.
    Llerena, Juan.
    Fernandes, Octavio.
    Harris, Ann, 1956-
  • The 3120+1GA Splicing Mutation in CFTR Is Common in Brazilian Cystic Fibrosis Patients
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    Subject Headings:
    • Cystic fibrosis gene -- Brazil -- Rio de Janeiro.
    • Human population genetics -- Brazil -- Rio de Janeiro.
      Cystic fibrosis patients from Rio de Janeiro, Brazil, were screened for mutations in exons 11 and 16 of the cystic fibrosis transmembrane conductance regulator gene (CFTR) by a nonradioactive single-stranded conformational polymorphism (SSCP) analysis technique. This procedure was used to evaluate the undefined mutations in one or both alleles of 64 cystic fibrosis patients. Unusual SSCP profiles were investigated further by sequence analysis. Two patients were shown to carry the G542X mutation (exon 11) and five had the splicing mutation 3120+1G-->A (intron 16), one of them being homozygous for the mutation. This is the first report of the 3120+1G-->A mutation in Brazil, where it appears to be a frequent disease-associated molecular alteration in the CFTR gene.
      cystic fibrosis, splicing mutation, SSCP, brazilian population
    Eller, Elise.
  • Effects of Ascertainment Bias on Recovering Human Demographic History
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    Subject Headings:
    • Human population genetics -- Statistical methods.
      In recent years multilocus data sets have been used to study the demographic history of human populations. In this paper (1) analyses previously done on 60 short tandem repeat (STR) loci are repeated on 30 restriction site polymorphism (RSP) markers; (2) relative population weights are estimated from the RSP data set and compared to previously published estimates from STR and craniometric data sets; and (3) computer simulations are performed to show the effects of ascertainment bias on relative population weight estimates. Not surprisingly, given that the RSP markers were originally identified in a small panel of Caucasians, estimates of relative population weights are biased and the European population weight is artificially inflated. However, the effects of ascertainment bias are not apparent in a principal components plot or estimates of FST. Ascertainment bias can have a large effect in other genetic systems with inherently low heterozygosity such as Alus or single nucleotide polymorphisms (SNPs), and care must be taken to have prior knowledge of how polymorphic markers in a given data set were originally identified. Otherwise, results can be skewed and interpretations faulty.
      restriction site polymorphisms (RSPs), restriction fragment length polymorphisms (RFLPs) single nucleotide polymorphisms (SNPs), relative population weights
    Niu, Tianhua.
    Seielstad, Mark.
    Zeng, Xuan.
    Li, Guang.
    Apffel, Alex.
    Hahnenberger, Karen.
    Xu, Xiping.
  • Detection of Novel ALAD Gene Polymorphisms Using Denaturing High-Performance Liquid Chromatography
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    Subject Headings:
    • Genetic polymorphisms -- China.
    • Liquid chromatography -- China.
      Denaturing high-performance liquid chromatography (DHPLC), which is based on the separation of mismatched DNA heteroduplexes, is one of the most promising techniques for detecting nucleotide polymorphisms. Lead is an important environmental toxicant that can impair the cardiovascular, central nervous, renal, reproductive, and hematologic systems. Here we compare the sensitivity and efficiency of DNA polymorphism detection in the d-aminolevulinate dehydratase (ALAD) gene encoding the principal lead-binding protein in humans by means of DHPLC and direct DNA sequencing of polymerase chain reaction amplicons. In a sample of 48 unrelated Chinese women, five novel mutations were discovered in intron 6 (G13298C), exon 7 (C13348T), intron 8 (C13847T), intron 12 (C15096T), and the 3' untranslated region of exon 13 (A15762C). The allele frequencies of C13298, T13348, T13847, T15096, and C15762 alleles were 21.3%, 2.3%, 82.1%, 62.5%, and 1.1%, respectively. All five mutations were detected by both DHPLC and direct DNA sequencing. No previously reported missense ALAD mutations were found in this Chinese population. Our study confirms that DHPLC provides an accurate method for the rapid identification of single nucleotide polymorphisms.
      DHPLC, sequence analysis, genetics
    Roy, Bidyut.
    Majumder, Partha P.
    Dey, Badal.
    Chakraborty, Madan.
    Banerjee, Sanat.
    Roy, Monami.
    Mukherjee, Namita.
    Sil, Samir K.
  • Ethnic Differences in Distributions of GSTM1 and GSTT1 Homozygous "Null" Genotypes in India
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    Subject Headings:
    • Human population genetics -- India.
    • Ethnic groups -- India.
      We estimated the frequencies of GSTM1 and GSTT1 "null" homozygotes in 10 different ethnic populations of India by a genotyping method based on polymerase chain reaction. These populations, inhabiting diverse geographical locations and occupying various positions in the sociocultural hierarchy, were represented by a sample of 299 unrelated individuals. Frequencies of GSTM1 and GSTT1 "null" homozygotes varied from 20% to 79% and 3% to 39%, respectively, across the study populations. Maximum frequencies of GSTM1 and GSTT1 "null" homozygotes (79% and 39%, respectively) have been observed in the same population (Jamatia). Frequencies of homozygous "null" genotypes at the GSTM1 and GSTT1 loci show a significant positive correlation in these populations, which is contrary to expectations. A possible implication is that the two enzymes are working in tandem, instead of working in a complementary way.
      Indian populations, GSTM1, GSTT1, ethnic variation, positive correlation
    Wu, June Hsieh.
    Lee, Yuan-Teh.
    Hsu, Hsiu-Ching.
    Hsieh, Ling-Ling.
    Wen, Ming-Shien.
    Chern, Ming-Shyan.
    Wu, Delon.
  • Further Characterization of Apolipoprotein B Genetic Variations in Taiwanese
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    Subject Headings:
    • Apolipoprotein B.
    • Human population genetics -- Taiwan.
      Apolipoprotein B (apoB, protein; APOB, gene) is the main protein component of low-density lipoprotein (LDL) and plays an important role in blood lipid metabolism. Previously, we have reported four APOB coding regions, 5´ signal peptide, and 3´ repeat sequence polymorphisms in our population. In this report, we further characterize other APOB genetic variations. The results illustrate that the mutation frequencies for Arg3500Gln (1/846 alleles), Arg4019Trp (2/786 alleles), -265 C/T promoter region (0/264 alleles), and intron 2 A/G (0/450 alleles) are very low. Our population showed a frequency of 68.9% for the B4311 Ser allele. The B4311 Asn allele was associated with a higher apoB level than the Ser group (p < 0.05) in normal controls. In the normal controls, a higher B4311 Asn/Asn genotype frequency was found in the group with total cholesterol (TC) > 200 mg/dL and apoB concentration > 85 mg/dL than in the group with a TC < 200 mg/dL and apoB < 85 mg/dL (p = 0.03 for TC comparison).
      B3500, B4019, B4311, B promoter, B intron 2 enhancer, mutation rate, polymorphism, Taiwanese

Brief Communications

    Wu, Hong.
    Wang, Hong.
    Li, Hui.
    Akey, Joshua.
    Xiao, Fengyuan.
    Ke, Yuehai.
    Xu, Hongyan.
    Xiao, Junhua.
    Lu, Daru.
    Parra, Esteban.
    Shriver, Mark.
    Xiong, Momiao.
    Barton, Sara A.
    Hewett-Emmett, David.
    Liu, Weida.
    Jin, Li.
  • Skin Reflectance in the Han Chinese and Tibetan Populations
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    Subject Headings:
    • Human skin color -- China -- Tibet.
    • Human skin color -- China.
      Genetic and environmental factors are involved in the determination of skin pigmentation in humans. With the recent development of statistical and genetic tools in mapping complex traits in humans, it is becoming feasible to utilize such methods in identifying genes involved in skin pigmentation. Furthermore, the use of new portable reflectance spectroscopy instruments such as the Photovolt ColorWalk colorimeter allows researchers to measure skin reflectance of a large number of subjects with ease and accuracy. We used a new portable instrument (Photovolt ColorWalk) to study the skin reflectance of 372 Han Chinese and 274 Tibetan individuals to establish background reflectance measurements of unexposed skin of the inner upper arm in these two populations. In addition, we explored the effect of various factors such as age and gender on skin reflectance.
      skin pigmentation, quantitative traits, genetics
    Manco, Licínio.
    Oliveira, Ana Luísa.
    Gomes, Catarina.
    Granjo, André.
    Trovoada, Maria de Jesus.
    Ribeiro, M. Letícia.
    Abade, Augusto.
    Amorim, António.
  • Population Genetics of Four PKLR Intragenic Polymorphisms in Portugal and São Tomé e Príncipe (Gulf of Guinea)
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    Subject Headings:
    • Genetic polymorphisms -- Portugal.
    • Genetic polymorphisms -- Sao Tome and Principe.
      Four intragenic PKLR polymorphisms [1705A/C, 1738C/T, T10/19, and (ATT)n microsatellite] were studied in normal population samples of Central Portugal and São Tomé e Príncipe, a small archipelago located in the Gulf of Guinea, West Africa. For all loci, the observed genotype distributions do not deviate from Hardy-Weinberg equilibrium. The allele frequencies found in the Portuguese population are similar to those previously described in Caucasian populations. Mother-child pair analysis for the (ATT)n microsatellite does not show deviations to the Mendelian rules. In São Tomé e Príncipe the biallelic polymorphisms 1705A/C, 1738C/T, and T10/19 presented inverse allelic frequencies when compared with the Portuguese population. Two new alleles were found at the (ATT)n microsatellite. Significant statistical differences were found between both populations. The results showed that São Tomeans had higher haplotype diversity and lower linkage disequilibrium among the polymorphic sites. The PKLR intragenic polymorphisms, commonly used in haplotype analysis with the gene mutations in PK-deficient patients, can thus be successfully employed in anthropological genetics.
      pyruvate kinase, PKLR gene polymorphisms, population genetics, Sub-Saharan Africa

Book Reviews

    Salzano, Francisco M.
  • The Diego Blood Group System and the Mongoloid Realm (review)
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    Subject Headings:
    • Layrisse, Miguel. Diego blood group system and the mongoloid realm.
    • Wilbert, Johannes.
    • Blood groups -- Diego system.
    Dupras, Tosha L.
  • The Bone Lady: Life as a Forensic Anthropologist (review)
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    Subject Headings:
    • Manhein, Mary H. (Mary Huffman) Bone lady: life as a forensic anthropologist.
    • Manhein, Mary H. (Mary Huffman)

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