The Polymorphism of Mitochondrial DNA Coding Region in Four Ethnic Populations from Guizhou

Objective To study the nucleotide polymorphism of mitochondrial DNA(mtDNA) coding region in Tujia,Dong,Gelao and Yi ethnic populations from Guizhou.Method The 8 SNP loci in the coding region and 9bp deletion COⅡ/tRNA~(lys) intergenic region of 145 samples from four ethnic populations were detected by PCR-RFLP and direct sequencing.Result The frequencies of 9bp deletion in Tujia,Dong,Gelao and Yi populations were 18.4%,29.7%,25%and 16.7% respectively,and the average frequency was 22.8%.A10398G,C10400T mutation were very common in four ethnic populations,and the frequencies of A663G,C5178A and G12406A mutation were higher in the some populations;a total of 14 different haplotypes were identified in 145 samples, and 11,10,8,6 haplotypes were observed in the Tujia,Dong,Gelao and Yi populations respectively.Conclusion There are different mutational hot spots of mtDNA coding region in the four ethnic populations from Guizhou.The frequencies of allele and haplotype distribution of 8 mtDNA SNP loci are different among four ethnic populations.