联合应用常染色体STR、X-STR和线粒体SNP鉴别缺失双亲姐妹同胞关系  

Identification of the relationship of orphaned sisters by combined using autosomal STR,X-STR and mitochondrial-SNP

作　　者：王晓勋[1] 陈敏[2] 李瑞明[1] 贺娇[3] 王彦涛[4] 罗银州 

机构地区：[1]湖北十堰市太和医院检验部法医物证实验室,湖北十堰442000 [2]湖北十堰市西苑医院三堰门诊部,湖北十堰442000 [3]湖北医药学院第二临床学院,湖北十堰442000 [4]湖北省十堰市公安局刑事物证实验室,湖北十堰442000

出　　处：《分子诊断与治疗杂志》2014年第6期366-371,共6页Journal of Molecular Diagnostics and Therapy

基　　金：国家自然科学基金(81171783)

摘　　要：目的对双亲缺失的姐妹进行同胞鉴定。方法采用chelex-100法提取血液DNA,通过检测常染色体短串联重复序列(short tandem repeat,STR)位点、X染色体STR位点和线粒体单核苷酸多态性(single nucleotide polymorphism,SNP)进行基因分型,分型结果通过判别函数、ITO法、X染色体STR位点和线粒体SNP分析的方法进行同胞关系判定。结果 39个常染色体等位基因位点的共享基因数为27个,用辨别函数判别归于无关个体;用ITO法计算亲缘关系系数(FSI)为6.95003×10^(-44),判别为无关个体;12个X染色体STR等位基因位点中,有3个X染色体STR位点不匹配,排除姐妹俩来自同一父亲;线粒体SNP的检测显有3个基因座不同,两人来源于不同母系。结论通过联合利用常染色体STR、X染色体STR和线粒体SNP检测技术进行确认两人不是同胞姐妹关系。Objective To carry out a sibling identification on the orphaned sisters. Methods Genomic DNA of two ladies were extracted by using chelex-100 method. Genotyping was performed by detecting STRs loci on autosome, STR loci on X-chromosome and mitochondrial-SNP loci. Then the data were analyzed by discriminant function analysis , ITO method , X-STR analysis and mitochondrial-SNP analysis to identify the sibling relation of the orphaned sisters. Results There were 27 shared loci among 39 STRs loci on the autosome , which were considered as unrelated individuals based on discriminant function analysis and ITO method. 3 inconsistent loci were detected among 12 X-STR loci , which implied that the two sisters didn’t have a biological father. 3 inconsistent loci were detected among 49 mitochondrial-SNP loci, which suggested that they didn’t have a biological mother. Conclusion The joint use of the technology of autosome STR , X-chromosome STR and mitochondrial-SNP determined that two ladies were not sibling relationship.

关 键 词：亲权鉴定 同胞关系鉴定 法医遗传学 

分 类 号：D919.4[医药卫生—法医学]