中国北方人群14个短串联重复序列位点的遗传多态性分析

Analysis on genetic polymorphism of 14 short tandem repeat loci on chromosome 7p14-15 and 12q13 in Chinese north Hans

目的 分析中国北方汉族人群中染色体 7p14 - 15区域内 6个短串联重复序列 (short tandemrepeat,STR)位点和 12 q13区域内 8个 STR位点的遗传多态性。方法 采用荧光标记 PCR扩增技术和毛细管电泳方法 ,对染色体 7p14 - 15区域内 D7S180 8、D7S2 2 5 0、D7S2 2 5 1、D7S6 83、D7S6 5 6、D7S5 2 8位点和12 q13区域内 D12 S10 5 6、D12 S12 93、D12 S83、D12 S16 5 5、D12 S16 6 2、D12 S334、D12 S137、D12 S10 2位点在10 0名随机选取的无血缘关系的中国北方汉族人群中的遗传多态性进行分析。结果 在中国北方汉族人群中 ,染色体 7p14 - 15区域的 D7S180 8、D7S2 2 5 0、D7S2 2 5 1、D7S6 83、D7S6 5 6和 D7S5 2 8位点分别检测出 7、8、7、4、6和 5个等位基因 ,2 4、2 7、2 2、10、17和 13种基因型 ,杂合度分别为 86 %、88%、83%、79%、85 %和80 % ;染色体 12 q13区域的 D12 S10 5 6、D12 S12 93、D12 S83、D12 S16 5 5、D12 S16 6 2、D12 S334、D12 S137和D12 S10 2位点分别检测出 5、5、8、6、6、6、5和 7个等位基因 ,15、15、2 9、17、17、19、13和 2 4种基因型 ,杂合度分别为 86 %、84 %、87%、82 %、84 %、85 %、81%和 89%。结论 染色体 7p14 - 15区域的 6个 STR位点和12 q13区域的 8个 STR位点基?

Objective: To analyze the genetic polymorphism of 6 short tandem repeat(STR) loci on chromosome 7p14-15 and 8 STR loci on chromosome 12q13 in Chinese north Hans. Methods: Fluorescence-labeling polymerase chain reaction and capillary electrophoresis were used to analyze the genetic polymorphism of 100 randomly selected individuals from Chinese north Han nationality at 6 STR loci (D7S1808, D7S2250, D7S2251, D7S683, D7S656 and D7S528) on chromosome 7p14-15 and 8 STR loci (D12S1056, D12S1293, D12S83, D12S1655, D12S1662, D12S334, D12S137 and D12S102) on chromosome 12q13. Results: In the Chinese north Han population, 7 alleles and 24 genotypes, 8 alleles and 27 genotypes, 7 alleles and 22 genotypes, 4 alleles and 10 genotypes, 6 alleles and 17 genotypes, 5 alleles and 13 genotypes were observed at D7S1808, D7S2250, D7S2251, D7S683, D7S656 and D7S528. The heterozygosities at the above 6 STR loci were 86%, 88%, 83%, 79%, 85% and 80%, respectively. Five alleles and 15 genotypes, 5 alleles and 15 genotypes, 8 alleles and 29 genotypes, 6 alleles and 17 genotypes, 6 alleles and 17 genotypes, 6 alleles and 19 genotypes, 5 alleles and 13 genotypes, 7 alleles and 24 genotypes were observed at D12S1056, D12S1293, D12S83, D12S1655, D1281662, D12S334, D12S137 and D12S102. The heterozygosities at the above 8 STR loci were 86%, 84%, 87%, 82%, 84%, 85%, 81% and 89%, respectively. Conclusion: The distributions of allele frequencies of 6 STR loci on chromosome 7p14-15 and of 8 STR loci on chromosome 12q13 were consistent with the Hardy-Weinberg equilibrium. The highly genetic polymorphism was observed in Chinese north Han population.