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  

Analysis on genetic polymorphism of 13 STR loci on chromosomes 11 and 19 in Chinese Hans

作　　者：李江夏[1] 刘欣[2] 龚瑶琴[1] 郭辰虹[1] 刘晓军[1] 邹雅群[1] 刘奇迹[1] 陈丙玺[1] 郭亦寿[1] 

机构地区：[1]山东医科大学医学遗传学教研室,济南250012 [2]山东省临沂医学专科学校医学遗传学教研室

出　　处：《中华医学遗传学杂志》2001年第3期173-177,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金!(39870 4 0 9)&&

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、D11S2 0 0 2、D11S1986、D11S44 6 4、D11S2 35 9位点和 19号染色体上 D19S2 47、D19S714、D19S433、D19S2 46、D19S2 5 4位点在 10 0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、D11S2 0 0 2、D11S1986、D11S44 6 4、D11S2 35 9,位点分别检出 8、9、6、12、6、12、8和 7个等位基因 ,2 6、15、16、40、19、48、2 0和 13个基因型 ,杂合度分别为 87%、6 8%、73%、92 %、71%、86 %、75 %和 71% ;在19号染色体上的 D19S2 47、D19S714、D19S433、D19S2 46和 D19S2 5 4位点分别检出 10、10、10、11和 8个等位基因 ,19、2 6、2 4、2 9和 18个基因型 ,杂合度分别为 6 3%、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.

关 键 词：短串联重复序列 遗传多态性 Hardy-Weinberg平衡 11号染色体 19号染色体 中国 汉族人群 遗传病 

分 类 号：R394.5[医药卫生—医学遗传学]