摘要
【目的】应用SNaPshot技术建立23-plexY-SNPs的复合扩增体系,研究其在法医学中的应用价值。【方法】从Y染色体单体群命名树上选择23个Y-SNP位点:P164、P203、P148、P145、M89、P151、M216、P128、P157、P149、P131、P199、P123、P191、P201、M111、M9、P132、P200、P197、M119、P136和M134,进行复合PCR扩增,PCR产物纯化后利用荧光标记单碱基延伸技术(SNaPshot试剂盒)结合毛细管电泳技术对单核苷酸多态性进行检测,应用该体系调查了290名广东地区无亲缘关系的男性个体。【结果】所建立的23个Y-SNPs检测体系,各位点均具有遗传多态性,基因多样性范围为0.0137～0.4912。在290名男性中检测到143个单体型,单体型多样性为0.9907。【结论】该23个Y-SNPs检测体系能快速而准确的对样本进行SNP分型,在法医学、人类学和相关学科的研究中具有较高的应用价值。
Objective To develope a robust single nucleotide polymorphism（SNPs） typing assay with co-amplification and to type 23 human Y chromosome SNPs using SNaPshot kit.Methods Markers were drawn from the phylogenetic tree of Y chromosome：P164,P203,P148,P145,M89,P151,M216,P128,P157,P149,P131,P199,P123,P191,P201,M111,M9,P132,P200,P197,M119,P136,and M134.All 23 Y-SNPs in one reaction were amplified;the pooled PCR products were purified.The minisequencing reactions were performed simultaneously for all 23 Y-SNPs with fluorescein-labeled dideoxynucleotides.A total of 290 male Chinese in Guangdong were genotyped by capillary electrophoresis and multicolour fluorescence detection.Results A 23-plex Y-SNPs co-amplification system was developed.All of the Y-SNPs are polymorphic in Chinese.The gene diversity of the Y-SNPs ranged from 0.013 7-0.491 2.A total of 143 haplotypes were found,the haplotype diversity was calculated to be 0.990 7.Conclusion The 23-plex Y-SNPs system developed is efficient,high-throughput and appears to be suitable for forensic science and anthroponomy.
出处
《中山大学学报（医学科学版）》
CAS
CSCD
北大核心
2010年第5期685-691,共7页
Journal of Sun Yat-Sen University:Medical Sciences
基金
国家十一五科技支撑计划课题(2006BAK07B01)
公安部重点科技攻关项目(20034421401)
