5个X染色体STR基因座的群体遗传学分析  

An analysis on population genetics of five X-STR loci

作　　者：唐剑频[1,2] 蒋丰慧[3] 高玉振[4] 石美森[1] 许传超[2] 陈锐[2] 

机构地区：[1]证据科学教育部重点实验室,北京100088 [2]广东医学院东莞校区法医学教研室,523808 [3]广东医学院东莞校区门诊部,523808 [4]苏州大学医学院法医学教研室,215325

出　　处：《国际遗传学杂志》2012年第4期193-197,共5页International Journal of Genetics

基　　金：证据科学教育部重点实验室（中国政法大学）开放基金资助项目（2010KFKT05）

摘　　要：目的调查苏州汉族群体中5个X．STR的等位基因和单倍型分布，以及分析这些基因座间的连锁不平衡关系。方法应用Che1ex法提取样本DNA，PCR扩增5个x．STR，应用自动测序仪对PCR产物进行分型。结果苏州汉族群体中，DXS7423、DXS10147、DXS10146、DXS10134、DXS8377分别观察到5、6、15、21、15个等位基因；男女性样本间，DXS7423、DXS10147、DXS10134的等位基因频率差异无统计学意义，P值分别为0．161、0．756、0．179；DXS10146、DXS8377等位基因频率差异具有统计学意义，P值分别为0．008和0．005。5个X-ST11的观察杂合度在0．505—0．845间，啤值在0．684～0．977间，DPm值在0．487～0．902间，MCEtrio值在0．469～0．894间，MCEduo值在0．266～0．860间。男性样本中，观察到111种单倍型，单倍型变异度为0．9916。结论苏州汉族群体中，5个X-STR中DXS10146、DXS10134、DXS8377多态性较好；5个X．STR构成的单倍型鉴别能力较高。Objective To investigate the frequencies of allele and haplotype of 5 X-STR in Suzhou Han population, and to analyze the linkage disequilibrium among 5 X-STR loci. Methods Genomic DNA of samples was extracted using Chelex method. All loci were amplified using PCR, and were genotyped using the automatic sequencer. Results A total of 5, 6, 15, 21 and 15 alleles at DXS7423, DXS10147, DXS10146, DXS10134 and DXS8377 were observed in Suzhou Han population, respectively. No significant difference of allelic frequencies between females and males was found at DXS7423（P=0.161）, DXS10147（P=0.756） and DXSI0134（P=0. 179）. Significant differences of allelic frequencies between females and males were found at DXSI0146 and DXS8377 （P= 0. 008 and 0. 005 ）. The values of observed heterozygosities range from 0. 505. to 0.. 845 in Suzhou Han population, DPf values vary between 0. 684 and 0. 977, DPm values vary between 0. 487 and 0. 902 , MCE,rio values range from 0. 469 to 0. 894, and MCEduo values range from 0. 266 to 0. 860. A total of 111 haplotypes were observed in males of Suzhou Han population, and haplotype diversity was 0.9916. Conclusion The DXS 10146, DXS 10134 and DXS 8377 loci are more polymorphic than other loci in Suzhou Hanpopulation. The haplotypes composed of 5 loci show good identification efficiency.

关 键 词：短串联重复序列(STR) X染色体 单倍型 连锁不平衡 

分 类 号：D919[医药卫生—法医学]