title: Exploring of new Y-chromosome SNP loci using Pyrosequencing and the SNaPshot methods.
abstract: The single nucleotide polymorphisms on the Y chromosome (Y-SNP) have been considered to be important in forensic casework. However, Y-SNP loci were mostly population specific and lacked biallelic polymorphisms in the Asian population. In this study, we developed a strategy for seeking and genotyping new Y-SNP markers based on both Pyrosequencing and the SNaPshot methods. As results, 34 new biallelic markers were observed to be polymorphic in the Chinese Han population by estimation of allele frequencies of 103 candidate's Y-SNP loci in DNA pools using Pyrosequencing technology. Then, a multiplex system with 20 Y-SNP loci was genotyped using the SNaPshot™ multiplex kit. Twenty Y-SNP loci defined 56 different haplotypes, and the haplotype diversity was estimated to be 0.9539. Our result demonstrated that the strategy could be used as an efficient tool to search and genotype biallelic markers from a large amount of candidate loci. In addition, 20 Y-SNP loci constructed a multiplex system, which could provide supplementary information for forensic identification.
authors.affiliation: Department of Forensic Genetics, West China School of Basic Science and Forensic Medicine, Sichuan University (West China University of Medical Sciences), Chengdu, 610041, Sichuan, China. weiwei090818@163.com
authors.forename: Wei
authors.initials: W
authors.lastname: Wei
authors.forename: Hai-Bo
authors.initials: HB
authors.lastname: Luo
authors.forename: Jing
authors.initials: J
authors.lastname: Yan
authors.forename: Yi-Ping
authors.initials: YP
authors.lastname: Hou
mesh_terms: D044466:Asian People / Q000235:genetics*; D002681:China; D002874:Chromosome Mapping / Q000379:methods; D041322:Chromosomes, Human, Y / Q000235:genetics*; D019075:Electrophoresis, Capillary; D005260:Female; D053803:Forensic Genetics / Q000379:methods*; D005787:Gene Frequency; D005788:Gene Pool; D056426:Genetic Loci / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics*; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011237:Predictive Value of Tests; D017422:Sequence Analysis, DNA / Q000379:methods*; D012984:Software
chemical_list: D005819:Genetic Markers