ABSTRACT
<p><b>OBJECTIVE</b>To investigate the sequence polymorphism of mtDNA coding region encompassing nt3954-4506 in the Korean Chinese population of Yanbian area.</p><p><b>METHODS</b>Polymerase chain reaction (PCR) and direct sequencing method were used to detect the haplotype distribution of mtDNA coding region in 198 Korean Chinese individuals.</p><p><b>RESULTS</b>Twenty-one haplotypes were observed in the 198 unrelated individuals. The genetic diversity was 0.5906 and the random match probability was 0.4124. Compared with the Andersonos sequence, 19 nucleotide variants were found, of which 14 were previously registered in MITOMAP, and 5 were novel.</p><p><b>CONCLUSION</b>The obtained data suggest that these sequence polymorphisms are valuable genetic markers for personal identification when combined with mtDAN control region investigation, thus could be used as basic data for the forensic application in Korean Chinese population.</p>
Subject(s)
Humans , Asian People , Genetics , China , DNA, Mitochondrial , Genetics , Ethnicity , Genetics , Genetic Variation , Haplotypes , Korea , Ethnology , Open Reading Frames , Genetics , Polymorphism, Genetic , Sequence Analysis, DNAABSTRACT
<p><b>OBJECTIVE</b>To investigate the genetic polymorphisms of DXS7132, DXS6854, DXS6797, DXS9898, DXS8378 and GATA31E08 short tandem repeats (STRs) loci in Chinese Korean ethnic group of Yanbian, Jilin, and to construct a preliminary database.</p><p><b>METHODS</b>The allele frequencies of the six STRs loci in Chinese Korean ethnic individuals were analyzed by multiplex polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis (PAGE).</p><p><b>RESULTS</b>Total of 8, 6, 8, 8, 5 and 10 alleles were observed in each locus respectively. All loci (in female) met Hardy-Weinberg equilibrium (P > 0.05). The statistical analysis of the 6 STR loci showed the heterozygosities were more than 0.4660, the polymorphic information contents (PIC) were more than 0.5293, the haplotype diversity were more than 0.9993, power of discrimination (PD) in females and males were more than 0.7737 and 0.6107, respectively.</p><p><b>CONCLUSION</b>The results showed that, all the 6 STR loci in this study were found to have high heterozygosity and polymorphic information content, so they could provide useful markers for genetic purposes. These results could serve as valuable data to enrich the Chinese Korean ethnic group genetic database and play an important role in genetic study of Chinese population.</p>