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

The compiled data on the distribution of polymorphic serum proteins (HP, C3, GC), red cell enzymes (ESD, GlO1, PGD, AK1, ADA, GPT, PGP, PGM1, ACP1) and also on some monomorphic systems (ALB, CAI, CAII, CP, G6PD, HBA, HBB, IDH1, LDHA, LDHB, MDH1, PEPA, PEPB, PEPC, PGM2, PHI, TF) in the Caucasus are presented. The interpopulation heterogeneity test shows a high level of genetic differentiation in the following loci: HP, GC, ESD, AK1, TF, PGD. Gene frequencies in the Caucasian ethnic groups were found to be approximately equidistant from those of European and West Asian populations, in line with their geographical location.

Allele frequency distribution of the VNTR locus D2S44 was studied in Tamil Nadu (South India) population. Randomly chosen individuals (Tamils of the plains, Madras City; N = 142) were tested for HaeIII-generated polymorphism detectable by probe YNH24, and the allele sizes and frequencies were determined. Heterozygosity (93.6%) observed in the Tamils is comparable to that of other populations; the size and frequency distribution of alleles, however, vary significantly. The most prevalent allele, which ranges from 1.2 to 1.9 kb, appears to be unique to the Tamil Nadu population. No mutation was observed for the D2S44 locus in family material made up by 54 subjects (N = 54) including 37 offspring. DNA polymorphism at D2S44 locus was also studied in the endogamous Kota tribe of the Nilgiri Hills, South India, using enzyme HaeIII and probe YNH24. The Kota group (N = 48) is characterized by a very high frequency (32.3%) of the bin 1197-1352 bp. The DNA profile of the Kotas shows distinct differences from that of the urban population in the plains of Tamil Nadu, South India (Tamils of Madras City). The results have also been compared with the literature available on other world populations. The outcome indicates the uniqueness of the tribal Kotas and warrants the importance of DNA profiling in other tribal, caste/endogamous groups of India. This report incidentally represents the first comprehensive DNA profiling data for the locus D2S44 from India fulfilling the requirement for forensic and other applications.

Allele and genotype frequencies at the HLA-DQA1 locus were determined in Basque Country populations using PCR methodology and a dot-blot assay with ASO probes. The results showed no deviation from the Hardy-Weinberg equilibrium. No differences were found between the three Basque Provinces, but gene frequencies were significantly different from those of some other Spanish and world populations.

PGM1 polymorphism in five Han subpopulations in China was investigated by polyacrylamide gel isoelectric focusing. The frequency of PGM1*1A was 0.6256 for Xi'an Han, 0.5982 for Zhengzhou Han, 0.6429 for Huhhot Han, 0.6232 for Lanzhou Han, and 0.6000 for Hakka in Guangdong Province. There was a north to south cline of PGM1*1A frequency.

Nine-hundred and twenty-two individuals belonging to the five provinces of Puglia were typed for nine erythrocyte genetic markers (ACP1, ADA, AK1, ESD, GLO1, PGD, PGM1, PGM2, and SODA). Genetic heterogeneity within Puglia was investigated on the basis of allele frequencies of the above mentioned markers plus ABO*A, ABO*B, ABO*O, and RH*D, by the (chi 2 test and Rst statistic. The analyses revealed no differences at the provincial level. Furthermore, correspondence and genetic distance analyses were applied to look for a statistical difference within Puglia from different standpoints, as well as between Puglia, the rest of Italy and other European and Near and Middle Eastern populations whose genetic history is most likely related. Southern and central Italian, Greek and Aegean populations appeared very homogeneous and quite differentiated from the rest of Europe, both continental (including northern Italy) and south-eastern, stressing the major impact of the heavy Greek colonization on the genetic pools of the circum-Mediterranean people.

A sample of 500 unrelated individuals from Cantabria (middle north Spain) has been studied for red cell Phosphoglucomutase (PGM1) using isoelectric focusing in polyacrylamide. The allele frequencies observed were: PGM1*1 +: 0.643, PGM1*1-: 0.121, PGM1*2 +: 0.195, PGM1*2-: 0.041 and are similar to those reported for other European and Spanish populations. The theoretical exclusion rate in cases of disputed paternity is 30.24%.

Genetic polymorphism subtypes of PGM1 and GC were studied in four samples of the Sardinian population from the four Provinces of the island. The results show heterogeneity within the Sardinian population. The PGM1 alleles exhibiting the greatest variability were: PGM1*1S and PGM1*1F, with a range of .675-.724 (Nuoro - Sassari) and .072-.107 (Sassari - Nuoro) respectively. The observed GC allele frequency range were: GC*1F = .029-.168 (Cagliari - Sassari); GC*1S = .565-.752 (Sassari - Oristano); GC*2 = .194-.267 (Cagliari - Sassari). Sardinians showed a marked differentiation with respect to other Italian and European populations thus confirming their genetic peculiarity.

The present paper gives the results of our study on the distribution of phenotypes and gene frequencies of placental alkaline phosphatase (PLAP) in the Shia and Khoja Muslim groups living in Hyderabad, Andhra Pradesh, South India. All six common PLAP phenotypes and three cases of rare phenotypes have been observed.

The genetic heterogeneity of some common red cell enzyme markers among four endogamous tribal populations namely Konda Dora, Kotia, Bod Mali and Manzai Mali was investigated by starch/polyacrylamide/cellulose acetate gel electrophoresis. ACP, ESD, PGM1, G6PD, AK1, ADA, 6PGD enzymes and haemoglobin exhibited a polymorphism. PGM2, LDH, MDH, SOD, GOT, CA1, CA2 and GPI were monomorphic. A slow variant of SOD similar to that found in SOD 2-1 heterozygote was observed with a frequency of 1.31% among Kotia tribe. Most populations of the present study were in Hardy-Weinberg equilibrium for the majority of the genetic markers examined. The results are discussed in the light of available data on other Andhra populations.

HLA - A, B, C, DR, DQ antigen profile of South Indian Tamil-speaking Hindus of Dravidian descent was studied. Phenotype, gene and haplotype frequencies were calculated and compared with the literature. There was a complete lack of A23, A25 and A32 antigens in the sample presently monitored. Except for minor differences (higher incidence of Cw6 and DR10 antigens), the Dravidian Hindus show similarity to North Indio-Aryan and other Hindu samples. The haplotypes A1, B17; A2, B5; A2, B51; A1, DR7; B12, DR7; B13, DR2; B17, DR7; DR2, DQ1; DR3, DQ2; DR4, DQ3; DR5, DQ3; DR7, DQ2; DR11, DQ3; show significant positive linkage disequilibrium whereas A1, DR2; DR2, DQ2; DR7, DQ1 were significant for negative linkage disequilibrium in the Dravidian Hindus.