Gene geography : a computerized bulletin on human gene frequencies最新文献

Polymorphism of factor H (HF) was investigated in 1060 unrelated Japanese individuals using isoelectric focusing and immunoblotting. Besides 6 different HF types a null type and an unusual type were observed. The family analysis suggested the hereditary occurrence of a new variant allele HF*C. The population data fitted the Hardy-Weinberg equilibrium, assuming that the null allele HF*QO occurs commonly. The allele frequencies were HF*A = 0.407 +/- 0.011, HF*B = 0.491 +/- 0.011, HF*A1 = 0.011 +/- 0.002 and HF*QO = 0.091 +/- 0.006. The HF polymorphism in Japanese was shown to be controlled by the above 4 common alleles.

Blood and serum samples from random individuals of three populations in south India, the first being an endogamous group from the Nilgiri hills (Tamil Nadu), the second from the Shevroy hills (Tamil Nadu), and the third from a semi-urban area of Tamil Nadu, were screened for ESD, GLO1 and Hp polymorphisms. The allelic frequencies for these markers have been estimated. High GLO1*1 (0.379) frequency was observed in the tribal Malayalis, in contrast with other Indian population groups.

The genetic variation of four highly polymorphic serum proteins, haptoglobin (HP), transferrin (TF), group-specific component (GC) and alpha-1-antitrypsin (PI) was examined in two representative samples of the autochthonous populations living on either slope of Sierra de Gredos in central Spain. The genetic markers studied do not provide any evidence that the mountain chain has contributed to the maintenance of a genetic differentiation between the two populations. The allele frequency distributions in these Gredos samples are discussed in relation to the variability of these markers in the Iberian Peninsula populations.

A survey on the distribution of red cell group systems, including ABO, MNSs, Rhesus and P, was carried out in the Achang and De'ang ethnic groups in Yunnan Province, South-West China. The Achangs are characterized by the highest frequency of IA in China, while the De'angs show a high frequency of IO and CDe. The distribution of these blood group systems in Achang and De'ang exhibits the same characteristics observed in other ethnic groups of South China.

The polymorphism of alpha-2-HS-glycoprotein (AHSG, alpha 2HS) was analysed in a sample of New Zealanders consisting of 194 New Zealand Europeans and 236 New Zealand Maori. Thin layer polyacrylamide gel isoelectric focusing followed by immunofixation revealed four different AHSG phenotypes in New Zealand Europeans and three different AHSG phenotypes in New Zealand Maori. The AHSG*2 frequency of 0.695 for the New Zealand Maori population was found to be one of the highest reported for any population. AHSG*2 appears to be a useful genetic marker for Maori in anthropological studies.

Three Han subpopulations, Gansu, Henan, and Inner Mongolia were examined for red cell blood group systems, including ABO, Rh, MNSs, Kidd, Duffy, Diego, and Xg. There was no MS type in Gansu, no SS type in Henan and no MNS and NS types in Inner Mongolia, no CCDE- and CcDEE types in Henan, and no ccDee type in Inner Mongolia. The gene frequencies of S (0.0975) and P1 (0.2584) as well as the MS haplotype frequency (0.0629) in Gansu were the highest, while the Di(a) gene frequency (0.0151) in Henan was the lowest among the subpopulations of Han nationality studied so far. The Xg(a) gene frequency in Henan was 0.6055, the highest value observed in China. The genetic distances and phylogenetic tree of eight Han subpopulations showed that the Han in Henan were closest to the Han in Inner Mongolia, and that the Han in Fujian were closest to the Han in Guizhou among others.

Seventy-nine DNA polymorphisms from 57 loci (28 genes and 29 anonymous DNA segments) have been typed in eight human populations. Here we present allele frequencies for three populations (Japanese, New Guineans, and Australians) as well as revised frequencies for a Chinese sample: allele frequencies for five additional populations (Biaka and Mbuti Pygmies, Melanesians, Chinese, and Europeans) were described previously [Bowcock et al 1991a]. Evaluation of Hardy-Weinberg equilibrium for these polymorphisms suggested that the New Guinean sample may be from a highly substructured population. Average FST value for the 79 markers (polymorphisms) was 0.147 +/- 0.011 across the eight populations: Fst values for some markers changed dramatically with the addition of three populations--in particular, Australians and New Guineans. Average heterozygosity for eight populations was 0.307 +/- 0.014. Genetic distances indicated that the Australian sample may have some European ancestry. An average linkage tree inferred from these distances suggested that the first split of modern humans was between Africans and non-Africans, while the second major split was between Australians/New Guineans and all other non-Africans. The neighbor-joining tree also separated the African populations from all others. European polymorphism ascertainment bias and European admixture appear to have influenced both estimation of population heterozygosity and tree inference.

829 icteric newborn males were studied in order to have more information about the frequency of the G-6-PD deficiency and its origin in the population of the Monterrey Metropolitan area (MMA), in northeastern Mexico. For each subject information about the maternal grandparents' birthplace (states of Mexico) was gathered. The newborns were grouped into five geographic areas. It was found that the frequency of G-6-PD deficiency is higher in icterics than in normal newborns. The grandparents of the deficient newborns with variant B belonged to the northeastern states of Mexico where more European genetic contribution was present whereas most of the grandparents of the A- deficient newborns were from the gulf coast states, where the genetic contribution was African.

ABO, RH, MN, Kell, P, Lutheran, Lewis, HP, GC, ACP, PGM1, ADA and ESD markers were studied in 122 Valachian Gypsies from Vinodol in West Slovakia. The Valachian Gypsies represent about 5% of the total number of Gypsies (400,000) living in the Czech and Slovak Republic. The results show that their gene pool differs greatly from the one obtained for other Gypsy populations. Since Valachian Gypsies form an endogamous isolate with a high degree of inbreeding, genetic drift and founder effect might have contributed to this difference.

Red cell acid phosphatase (ACP1), adenylate kinase 1 (AK1), and aminolevulinate dehydratase (ALAD) polymorphisms were studied in a population sample from Northern Portugal. The gene frequency estimates found were: ACP1*A = 0.2825, ACP1*B = 0.6625, ACP1*C = 0.0547, ACP1*R = 0.0003 (N = 1517); AK1*1 = 0.9778, AK1*2 = 0.0213, AK1*3 = 0.0009 (N = 1081); ALAD*1 = 0.9094, ALAD*2 = 0.0906 (N = 1043).