河南汉族人群6q24-25.1区域STR基因座的遗传多态性

摘要

目的：在6q24-25.1区域重新查找高密度的短串联重复序列(STR)基因座并分析其群体遗传学参数。方法：在河南汉族120例无关个体的6Q24-25.1区域查找STR基因座，应用PCR和非变性聚丙烯酰胺凝胶电泳及银染技术进行分型，调查其在河南汉族群体内的遗传多态性。结果：在6q24-25.1区域共11 Mb范围内新查找到14个STR基因座(D6SZ1～14)，平均间距为700kb，这14个STR基因座分别检出5、6、2、3、6、6、7、4、7、4、4、5、4和4个等位基因。其中D6SZ2、D6SZ6、D6SZ7、D6SZ8、D6SZ9和D6SZ12基因座的多态信息含量(PIC)分别为：0.65、0.57、0.62、0.60、0.61和0.64；个体识别率(DP)分别为0.857、0.811、0.821、0.803、0.829和0.827。结论：D6SZ2、D6SZ6、D6SZ7、D6SZ8、D6SZ9和D6SZ12 6个STR基因座是一组良好的遗传标记。新查到的14个微卫星基因座标记可有助于6q24-25.1区域复杂疾病基因的定位。%Aim:To find new short tandem repeat( STR) loci of high density in 6q24-25. 1 and to analyze their population genetic parameters. Methods: 120 unrelated Han individuals in Henan province were selected as subjects of the study. The 14 STR loci in 6q24-25. 1 were investigated by using PCR following polyacrylamide gel electrophoresis and silver staining technique for genetic polymorphism analysis. Results: 14 STR loci (D6SZ1 - 14) had been found in6q24-25. 1 ,spanning 11 Mb,average interval of 700 kb. Among 120 unrelated individuals from Henan province, the number of alleles in 14 foci were 5,6,2,3,6,6, 7,4,7,4,4,5,4,4, respectively. Polymorphic information content and discrimination power of D6SZ2, D6SZ6, D6SZ7 , D6SZ8, D6SZ9 and D6SZ12 STR loci were 0. 65,0.57 ,0.62,0.60,0.61,0.64, and 0. 857,0.811, 0. 821,0.803,0. 829,0. 827. Conclusion:Six STR loci( D6SZ2,D6SZ6,D6SZ7,D6SZ8,D6SZ9 and D6SZ12) are satisfactory genetic markers. The 14 new STR loci could be used to localize the gene related to some disease.