多套试剂盒在亲权鉴定特殊案例中的应用  

Application of Multiple Kits in Special Parentage Testing Cases

作　　者：高洪梅[1,2] 王昌 张珊珊 肖东杰 孙善会[1,2] 汪运山 张茂修[1,2] GAO Hong-mei;WANG Chang;ZHANG Shan-shan;XIAO Dong-jie;SUN Shan-hui;WANG Yun-shan;ZHANG Mao-xiu(Jinan Central Hospital Affiliated to Shandong University,Jinan 250013,China;Jinan Di’en Legal Expertise Institute of Forensic Medicine,Jinan 250013,China)

机构地区：[1]山东大学附属济南市中心医院,山东济南250013 [2]济南迪恩法医司法鉴定所,山东济南250013

出　　处：《法医学杂志》2018年第4期405-410,416,共7页Journal of Forensic Medicine

基　　金：济南市卫生和计划生育委员会资助项目(2014-04)

摘　　要：目的分析山东汉族人群21个常染色体STR基因座的遗传多态性,同时对用Goldeneye~ DNA身份鉴定系统25A和20A检测存在基因突变或等位基因丢失的案例进行分析。方法用Goldeneye~ DNA身份鉴定系统25A和22NC对山东汉族人群273个无关个体的40个常染色体STR基因座进行分型,对其中21个STR基因座的遗传多态性进行分析。同时对6个存在基因突变的案例增加检测Goldeneye~ DNA身份鉴定系统22NC、20Y、17X。另外3个存在等位基因丢失的案例,用Amp FlSTR~ Identifiler~ Plus PCR扩增试剂盒验证并测序分析。结果获得山东汉族人群21个常染色体STR基因座的遗传学参数。增加到40个常染色体STR基因座:5个存在基因突变的案例可达到鉴定要求,X-STR或Y-STR分型结果一致;另外1个可能基因突变的二联体案例,共有6个基因座的基因分型在被检父找不到生物学来源,两人的Y-STR基因分型相同,说明来自同一父系,但通过常染色体分型排除父子关系。2个在D18S51基因座存在等位基因丢失的案例,经基因测序分析,在相应的引物结合区被检母和孩子存在碱基的突变或丢失;另1个被检母和孩子在D13S317基因座存在等位基因丢失的案例,通过Amp FlSTR~ Identifiler~ Plus PCR扩增试剂盒检测得到确认。结论山东汉族人群21个常染色体STR基因座有较高的遗传多态性,可用于日常的亲权鉴定案例。对部分存在基因突变的二联体案例,Goldeneye~ DNA身份鉴定系统25A无法满足鉴定要求,应适当增加常染色体STR基因座的检测个数。对于存在等位基因丢失的案例,改用不同公司的试剂盒或进行基因测序可以解决。Objective To analyse the genetic polymorphism of 21 autosome STR loci in Han population of Shandong Province and the cases with loci mutation or allelic loss typed by Goldeneye■DNA identification system 25A.Methods Totally 40 autosome STR loci types of 273 unrelated individuals in Han population of Shandong Province were typed by Goldeneye■DNA identification system 25A and 22NC,and the genetic polymorphism of 21 STR loci in those was analysed.Meanwhile,six cases with loci mutation were analysed by adding the tests with Goldeneye■DNA identification system 22NC,20Y and 17X.Another three cases with allelic loss were tested by AmpF■STR■Identifiler■Plus PCR and analysed by gene sequencing.Results The genetic parameters of 21 autosome STR loci in Han population of Shandong Province were obtained.When STR loci were added up to 40,five of those with loci mutation met the identification requirements,and the results of X-STR or Y-STR types were consistent with that of STR loci.There was another duo case with one suspected loci mutation,biological source of six STR loci genotypes could not be found in the genotypes of supposed father.The Y-STR genotype of two individuals was identical that indicated both of them came from same paternal line.However,the fatherhood was excluded according to the autosome STR loci system.For two cases with allelic loss on D18S51,base mutation or loss were found in the primer binding domain of mother and child by gene sequencing.Another mother-child case with allelic loss on D13S317 was certified by AmpF■STR■Identifiler■Plus PCR kit.Conclusion The 21 autosome STR loci in Han population of Shandong Province have high polymorphism,which can be used in routine cases of paternity identification.For some duo cases with loci mutation,Goldeneye■DNA identification system 25A cannot satisfy the identification requirements,thus more autosome STR loci should be added properly.For the cases with allelic loss,the problem can be resolved by gene sequencing or using different merchant kits.

关 键 词：法医遗传学 亲子关系 亲权鉴定 试剂盒 

分 类 号：DF795.2[医药卫生—法医学]