title: Development of a multiplex PCR system of 59 mitochondrial SNPs and genetic analysis in Chinese population.
abstract: The analysis of SNPs located on the mitochondrial DNA can provide information on maternal genetics. In the present study, a set of 59 SNPs were detected simultaneously using three multiplex allele-specific PCR and subsequent CE. Allele-specific primers were designed with different sizes to allow for specifically amplified paired alleles in the same reaction. An allelic ladder based on reference alleles was also created to maintain high-quality analysis standard. Samples from 400 unrelated individuals (200 of Han population and 200 of Uyghur population, China) were successfully analyzed and assigned into 106 relevant haplotypes, resulting in a discrimination power of 98.5%. The haplotype diversity was 0.978 for Han and 0.972 for Uyghur, respectively. Pairwise comparison of haplotype frequency distributions showed significant difference across ethnicities. These results suggest that the 59-SNP PCR system is a reliable, rapid, and economical method for large-scale screening of mitochondrial DNA variation, adding a new aspect for forensic individual identification.
authors.affiliation: Department of Forensic Medicine, Shanghai Medical College, Fudan University, Shanghai, P. R. China.
authors.forename: Yanchai
authors.initials: Y
authors.lastname: Nie
authors.forename: Chen
authors.initials: C
authors.lastname: Zhang
authors.forename: Haitao
authors.initials: H
authors.lastname: Jiao
authors.forename: Ziqin
authors.initials: Z
authors.lastname: Zhao
authors.forename: Huaigu
authors.initials: H
authors.lastname: Zhou
mesh_terms: D000483:Alleles; D000704:Analysis of Variance; D044466:Asian People / Q000235:genetics*; D002681:China; D004272:DNA, Mitochondrial / Q000235:genetics*; D060005:Genotyping Techniques / Q000379:methods*; D006801:Humans; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D020641:Polymorphism, Single Nucleotide
chemical_list: D004272:DNA, Mitochondrial
keywords: Allele-specific PCR; Forensic genetics; Haplotypes; Mitochondrial SNPs; Population data