中国汉族人群11号和19号染色体上13个STR位点的遗传多态性分析

摘要

目的分析中国汉族人群中11号染色体上8个短串联重复序列(short tandem repeat, STR)位点和19号染色体上5个STR位点的遗传多态性。方法采用PCR扩增技术和聚丙烯酰胺凝胶电泳方法，对11号染色体上D11S1984、D11S1999、D11S1392、D11S1985、D11S2002、D11S1986、D11S4464、D11S2359位点和19号染色体上D19S247、D19S714、D19S433、D19S246、D19S254位点在100名中国汉族人中的遗传多态性进行分析。结果在中国汉族人群中，11号染色体的D11S1984、D11S1999、D11S1392、D11S1985、D11S2002、D11S1986、D11S4464、D11S2359，位点分别检出8、9、6、12、6、12、8和7个等位基因，26、15、16、40、19、48、20和13个基因型，杂合度分别为87%、68%、73%、92%、71%、86%、75%和71%；在19号染色体上的D19S247、D19S714、D19S433、D19S246和D19S254位点分别检出10、10、10、11和8个等位基因，19、26、24、29和18个基因型，杂合度分别为63%、82%、72%、81%和74%。结论 11号染色体的8个STR位点和19号染色体的5个STR位点在中国汉族人群中有较好的多态性，其基因频率分布符合Hardy-Weinberg平衡。%Objective　To analyze the genetic polymorphism of 8 STR loci on chromosome 11 and 5 STR loci on chromosome 19 in Chinese Hans. Methods　Polymerase chain reaction-single strand length polymorphism(PCR-SSLP) was used to genotype 100 randomly selected individuals of the Han nationality at 8 STR loci(D11S1984, D11S1999, D11S1392, D11S1985, D11S2002, D11S1986, D11S4464 and D11S2359) on chromosome 11 and 5 STR loci(D19S247, D19S714, D19S433, D19S246, D19S254) on chromosome 19. Results　Eight alleles and 26 genotypes, 9 alleles and 15 genotypes, 6 alleles and 16 genotypes, 12 alleles and 40 genotypes, 6 alleles and 19 genotypes, 12 alleles and 48 genotypes, 8 alleles and 20 genotypes, 7 alleles and 13 genotypes were observed at D11S1984, D11S1999, D11S1392, D11S1985, D11S2002, D11S1986, D11S4464 and D11S2359. The heterozygosities for the 8 STR loci were 87%, 68%, 73%, 92%, 71%, 86%, 75% and 71%, respectively. Ten alleles and 19 genotypes, 10 alleles and 26 genotypes, 10 alleles and 24 genotypes, 11 alleles and 29 genotypes, 8 alleles and 18 genotypes were observed at D19S247, D19S714, D19S433, D19S246, D19S254. The heterozygosities for the 5 STR loci were 63%, 82% 72%, 81% 74%, respectively. Conclusion　 The distribution of allele frequencies of 8 STR loci on chromosome 11 and 5 STR loci on chromosome 19 was consistent with the Hardy-Weinberg equilibrium and the highly genetic polymorphism was observed in Chinese Han population.