12个X染色体短串联重复序列基因座的连锁不平衡和连锁分析  

Analysis of linkage disequilibrium and linkage for 12 short tandem repeat loci on chromosome

作　　者：叶乾素 唐剑频[2] 陈祖聪[1] 李发贵[1] 于昕 汪萍[1] 林汉光[2] 石美森[4] 

机构地区：[1]广西壮族自治区公安厅物证鉴定中心,南宁530012 [2]广东医学院东莞校区法医学教研室 [3]广西壮族自治区桂林市公安局刑侦支队 [4]中国政法大学法庭科学鉴定研究所

出　　处：《中华医学遗传学杂志》2014年第6期782-785,共4页Chinese Journal of Medical Genetics

基　　金：教育部新世纪优秀人才项目（NCET-10-0773）

摘　　要：目的分析广西桂林汉族群体中12个X染色体短串联重复序列（short tandem repeat on chromosomeX，X—STR）的连锁不平衡状态，以及2个连锁群X—STR的连锁关系和单倍型分布。方法应用AGCUX12STR荧光检测试剂盒复合扩增12个X—STR（DXS8378、DXSl0159、DXSl0162、DXSl0164、DXS981、DXS6789、DXS7424、DXSl01、DXS7133、GATAl65812、GATA31E08、DXS7423）；通过调查119个家系261名个体，分析这些基因座连锁关系和连锁不平衡状态。结果DXS7424、DXSl0164分别观察到2次和1次突变。261名桂林汉族无关男女性样本分别观察到93种DXSl0159-DXSl0162-DXSl0164构成的单倍型和167种DXS6789-DXS7424-DXSl01-DXs7133构成的单倍型。Dxsl0159与DXSl0162、DXSl0162与DXSl0164、DXS6789与DXS7424、DXS7424与DXSl01的重组率分别为0．0269、0．0236、0．0505、0．0438。结论X—STR的连锁不平衡状态并不完全依赖于遗传距离、物理距离。DXSl0159DXSl016-DXSl0164、DXS6789-DXS7424-DXSl01连锁群的基因座间呈不完全连锁关系。Objective To analyze linkage disequilibrium of 12 short tandem repeat loci on chromosome X （X-STR） among an ethnic Han population from Guilin, Guangxi, and to study the genetic linkage and haplotype distributions of such loci in 2 linkage groups. Methods 12 X-STR loci including DXS8378, DXS10159, DXS10162, DXS10164, DXS981, DXS6789, DXS7424, DXS101, DXS7133, GATA165B12, GATA31E08 and DXS7423 were genotyped using an AGCU X12 STR PCR Amplification kit. A total of 119 pedigrees were analyzed for linkage and linkage disequilibrium. Results Two mutations were found at DXS7424, and 1 mutation was found at DXS10164. A total of 93 haplotypes o{ DXS10159- DXS10162-DXS10164 were constructed for 261 unrelated males and females, in addition with 167 haplotypes of DXS6789-DXS7424-DXS101-DXS7133. The values of recombination fraction between DXS10159 and DXS10162, DXS10162 and DXS10164, DXS6789 and DXS7424, and DXS7424 and DXS10I were 0. 0269, 0. 0236, 0. 0505 and 0. 0438, respectively. Conclusion Linkage disequilibrium of X-STR does not only depend on physical and genetic distances. There was incomplete linkage relationship between loci on DXSI0159-DXS1016-DXS10164 and DXS6789-DXS7424-DXs101 linkage groups.

关 键 词：短串联重复序列 X染色体 连锁 连锁不平衡 

分 类 号：R394[医药卫生—医学遗传学]