D10S2325基因座多态性及稀有等位基因分析  

Genetic polymorphism of D10S2325 locus and certifcation of rare alleles

作　　者：赖力[1] 高澜琳 林赛梅[1] 陈点[1] 刘尚龙[1] 韩莉莉[1] 王尧城 余鸿 沈晓丽[1] Lai Li;Gao Lanlin;Lin Saimei;Chen Dian;Liu Shanglong;Han Lili;Wang Yaocheng;Yu Hong;Shen Xiaoli(Forensic Science Institute of Fujian Provincial Hospital. Fujian Provincial Key Laboratory of Cardiovascular Disease, Clinical College of Fujian Medical University, Fuzhou 350001 , China)

机构地区：[1]福建省立医院司法鉴定所、福建省心血管病重点实验室、福建医科大学省立临床学院,福州350001

出　　处：《国际遗传学杂志》2018年第1期13-18,共6页International Journal of Genetics

摘　　要：目的 研究福建群体中 D10 S2325基因座的遗传多态性并对稀有等位基因进行分析,探讨其作为遗传标记的应用价值.方法 应用 Investigator HDplex 检测系统对福建地区200名无关个体进行短串联重复序列（short tandem repeat,STR）基因座分型检测,统计D10 S2325基因座的遗传学参数,并合成D10 S2325单基因座引物,对检出的稀有等位基因进行测序分析.结果 福建群体中 D10S2325基因座共检出17个基因型,基因频率从0.0025到0.1475,个人识别率（power of discrimination,DP）=0.9498,非父排除概率（probabil-ity of paternity exclusion, PE）=0.7415,多态信息含量（polymorphism information content,PIC）=0.8276,检出稀有等位基因经序列测定结果为[TCTTA]24.结论 D10 S2325基因座在福建群体中具有良好的多态性,可以作为遗传学标记.HDplex 检测系统在实际应用时需准确判别D10 S2325基因座的稀有等位基因.Objective To identify the genetic polymorphism of D 10 S2325 locus in Fujian pop-ulation and certify the rare alleles in order to evaluate for potential in forensic application.Methods 12 STR loci were amplified in DNA samples from 200 unrelated individuals in Fujian population using Investi-gator HDplex system.Gene frequencies and genetic parameters of D 10 S2325 locus were obtained.Prim-ers of D10 S2325 locus were designed and rare alleles were proved by sequencing analysis.Result s 17 alleles of D10 S 2325 locus were found in Fujian population and gene frequencies of alleles were from 0.0025 to 0.1475.The personal identification rate（DP）was 0.9498, the probability of exclusion （PE）was 0.7415, and the polymorphism information content（PIC）was 0.8276.Sequencing analysis showed that the rare allele 24 of D10 S2325 locus was[TCTTA]24.Conclusion D10 S2325 locus can be used as a genetic marker because of the high polymorphism in Fujian population.In practice,the rare alleles of D 10 S2325 locus need to be accurately identified when investigator HDplex system has been used.

关 键 词：STR基因座 多态性 稀有等位基因 

分 类 号：R394[医药卫生—医学遗传学]