22号染色体4个STR基因座的遗传多态性及连锁关系

Genetic polymorphisms and genetic linkage of four STR loci on chromosome 22 in Chinese population

目的 研究22号染色体上4个STR在中国成都汉族群体的分布,开发新的STR应用于法医学应用。方法 103份汉族无血缘关系的个体血样,及10个三代家系采自成都。用PCR技术分别对4个STR基因座进行扩增,所有基因座均采用非变性聚丙烯酰胺凝胶不连续缓冲系统水平电泳进行分型,银染。应用Linkage软件包的CILINK软件对4个基因座进行连锁分析。结果 通过4个STR的群体遗传学分析,D22S686、D22S533、D22S685和D22S445的个人识别率分别为0.875、0.913、0.923和0.84,它们的非父排除率分别为0.522、0.538、0.624和0.490。在家系调查中,发现D22S685存在一例突变。结论 这4个STR具有很好的多态性,可作为法医学个人识别和亲权鉴定新的候选遗传标记。

Objective In order to develop a set of new markers for forensic application, We have chosen 4 STR loci, D22S686, D22S533, D22S685, D22S445, on chromosome 22 to study the distribution of the genotype and gene frequencies in Han population, Chengdu. Methods Blood samples form 103 unrelated individuals and 10 three-generations pedigrees were collected from Han ethnic group in Chengdu. DNA samples from 4 STR loci were amplified using PCR. The PCR products were analyzed by non-denaturing horizontal polyacrylaminde gel electrophoresis with discontinuous buffer system followed by sliver staining. Linkage analysis were performed by using CILINK software of Linkage software package. Results Discrimination probability of D22S686, D22S533, D22S685, and D22S445 were 0.875,0.913, 0.923, and 0.840 respectively. Power of exclusion of D22S686, D22S533, D22S685, and D22S445 were 0.522, 0.538, 0.624, and 0.490 respectively. A mutation event was observed at D22S685 in one pedigree. Conclusion These STRs are highly polymorphic, and are new candidate markers employed for forensic personal identitication and paternity testing.