中国深圳地区12个X染色体短串联重复序列基因座的遗传多态性:一项家系调查分析  

Genetic polymorphism of 12 short tandem repeat on chromosome X loci in Shenzhen,China:a pedigree investigation

作　　者：李桢[1] 李雪梅[1] 邹红岩[1] 程良红 Li Zhen;Li Xue-mei;Zou Hong-yan;Cheng Liang-hong(Institute of Transfusion Medicine, Shenzhen Blood Center, Shenzhen 518035, Guangdong Province, China;Central Laboratory of Guangdong Nantian Judicial Appraisal Institute,Shenzhen 518045, Guangdong Province, China)

机构地区：[1]深圳市血液中心输血医学研究所,广东省深圳市518035 [2]广东南天司法鉴定所中心实验室,广东省深圳市518045

出　　处：《中国组织工程研究》2017年第25期4065-4070,共6页Chinese Journal of Tissue Engineering Research

基　　金：深圳市科技计划项目(201302152)~~

摘　　要：背景:X染色体短串联重复序列(short tandem repeat on chromosome X,X-STR)具有特殊的遗传规律,使其在法医物证鉴定中表现出常染色体遗传标记无法比拟的优点。但其群体遗传学研究数据远比不上常染色体STR,尤其是单倍型遗传数据的报道在国内外均很少见。目的:通过家系分析,研究深圳地区12个X染色体STR基因座的遗传多态性,为X-STR在法医学、遗传学的应用提供科学有效的数据。方法:常规Chelex-100法提取118个家系的血样DNA,使用Investigator Argus X-12试剂盒进行PCR扩增。用直接计数法和Excel软件统计231个无关个体的等位基因频率,并用卡方检验对女性样本的12个X-STR基因座进行Hardy-Weinberg平衡检验,根据公式计算个体识别力和平均排除率。采用家系分析确定女性样本的单倍型,用直接计数法和Excel软件计算111位父亲和119位母亲的4个连锁群的单倍型频率。结果与结论:(1)基因多态性分析:DXS10135基因座的多态性最高,检出了21个等位基因;DXS7423基因座多态性最差,仅有4个等位基因;男性累积个体识别力DPm为0.999 999 99;女性累积个体识别力DPf为0.999 999 99;累积三联体平均排除率MECtrio为0.999 999 99;累积二联体平均排除率MECduo为0.999 998 11;(2)单倍型分析:试验获得了349个单倍型。连锁群X1-X4中分别有238,139,153和157个不同的单倍型;(3)结果说明,X-12检测系统在中国深圳地区具有较高的遗传多态性,在法医学个体识别及亲权鉴定中具有重要的应用价值。BACKGROUND:The special genetic law of short tandem repeat on chromosome X(X-STR)makes it incomparable with autosome markers in forensic identification.However,the population genetics data is far less than that of the autosome STR,and especially the haplotype data are rarely reported.OBJECTIVE:To study the genetic polymorphism of12X-STR loci in Shenzhen area by pedigree analysis,aiming to provide scientific and effective data for the application of X-STR in forensic medicine and genetics.METHODS:The blood samples of118families were taken to extract DNA by Chelex-100,followed by PCR amplification using Investigator Argus X-12kit.The frequency of alleles of231unrelated individuals was counted by direct counting method and Excel software.Hardy-Weinberg equilibrium test was performed on12X-STR loci of female samples by chi-square test.Discrimination power and mean exclusion chance were calculated according to the formula.Pedigree analysis was done to identify haplotypes of female samples and the haplotype frequencies of4linkage groups in111fathers and119mothers were calculated using direct counting method and Excel software.

关 键 词：干细胞 组织工程 X染色体 短串联重复序列 单倍型 等位基因频率 个体识别力 平均排除率 家系分析 多态性 连锁群 法医学 

分 类 号：R394.2[医药卫生—医学遗传学]