title: Typing of 24 mtDNA SNPs in a Chinese population using SNaPshot minisequencing.
abstract: Three SNaPshot multiplex assays were developed to test 23 coding region single nucleotide polymorphisms (SNPs) and one control region SNP outside hypervariable regions (HVR)I and II, which was aimed at increasing the discrimination power of the mitochondrial DNA (mtDNA) typing in forensic casework, and confirming haplogroup assignments of mtDNA profiles in both human population studies and medical research. The selected SNPs targeted the East Asian phylogeny. These multiplex assays were validated by comparing with the sequencing analysis of samples chosen randomly. The mtDNA variations of 100 unrelated individuals from the Wuhan population in China were examined and classified into 31 haplotypes, and the haplotype diversity was estimated to be 0.952. The multiplex SNaPshot method is rapid and robust, and suitable for large-scale screening studies of mtDNA variability.
authors.affiliation: Faculty of Forensic Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China. huangdaixin@mails.tjmu.edu.cn
authors.forename: Daixin
authors.initials: D
authors.lastname: Huang
authors.forename: Cheng
authors.initials: C
authors.lastname: Gui
authors.forename: Shaohua
authors.initials: S
authors.lastname: Yi
authors.forename: Qingen
authors.initials: Q
authors.lastname: Yang
authors.forename: Rongzhi
authors.initials: R
authors.lastname: Yang
authors.forename: Kun
authors.initials: K
authors.lastname: Mei
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002681:China / Q000208:ethnology; D016172:DNA Fingerprinting / Q000379:methods*; D004272:DNA, Mitochondrial / Q000235:genetics* / Q000302:isolation & purification; D053803:Forensic Genetics / Q000379:methods / Q000592:standards; D014644:Genetic Variation; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D008969:Molecular Sequence Data; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: D004272:DNA, Mitochondrial