单亲二倍体对亲子鉴定结论的影响分析  

Influence of uniparental disomy on the conclusion of paternity testing

作　　者：康冰 吴东 王鑫 王红丹 何淼 廖世秀 Kang Bing;Wu Dong;Wang Xin;Wang Hongdan;He Miao;Liao Shixiu(Henan Provincial People’s Hospital,People’s Hospital of Zhengzhou University,Zhengzhou,Henan 450003,China)

机构地区：[1]河南省人民医院郑州大学人民医院,郑州450003

出　　处：《中华医学遗传学杂志》2019年第9期938-942,共5页Chinese Journal of Medical Genetics

摘　　要：目的探讨在亲子鉴定(包括二联体和三联体)过程中,单亲二倍体对鉴定结论的影响.方法应用多位点复合扩增技术及毛细管电泳分型技术,对两例亲子鉴定案例进行分析;应用单核苷酸多态性芯片对疑似的单亲二倍体进行验证;应用二联体模型或三联体模型对亲权指数进行计算.结果两例亲子鉴定案例分别存在3个(均为2号染色体)和2个(均为15号染色体)短串联重复序列不符合孟德尔遗传规律;单核苷酸多态性芯片检测显示案例1和案例2的两名后代分别存在2号和15号染色体的杂合性丢失且拷贝数为2;案例1使用三联体模型计算亲权指数为1222749807565.23,案例2使用二联体模型计算亲权指数为13500.8463.参考《亲权鉴定技术规范》,结论均为支持生物学亲子关系.结论两例亲权鉴定均支持被检父与孩子之间存在生物学亲子关系,两名后代在2号染色体和15号染色体点分别存在单亲二倍体.Objective To explore the influence of uniparental disomy(UPD)on bipartite and tripartite paternity testing.Methods Two cases of paternity testing were analyzed by multiplex amplification and capillary electrophoresis typing.Suspected UPD was verified by using single nucleotide polymorphism array(SNP array).Parental power index was calculated by using a bipartite or tripartite model.Results The two cases were found to harbor respectively three short tandem repeats on chromosome 2 and two short tandem repeats on chromosome 15.SNP array verified that both cases were of UPD.Case 1 had a parental power index of 122274987565.23 by a tripartite model,while case 2 had a parental power index of 13500.8463 by a bipartite model.Based on the technical specification,the conclusions supported a biological parent-child relationship in both cases.Conclusion UPD may lead to misjudgment of paternity testing.The possibility of UPD should be considered when certain loci which do not conform to Mendelian inheritance have aggregated to one chromosome.

关 键 词：亲子鉴定 短串联重复序列 单亲二倍体 单核苷酸多态性芯片 

分 类 号：D9[政治法律—法学]