Genetic polymorphisms of 9 X-chromosome short tandem repeat loci in a Inner Mongolia Ewenki population and their forensic evaluation / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the alleles and genotypes frequency of 9 short tandem repeat (STR) loci on the X chromosome (DXS6789, DXS101, DXS8378, DXS7132, DXS7133, DXS7423, DXS6804, DXS6799, HPRTB) of Ewenki individuals living in Inner Mongolia Autonomous Region of China.</p><p><b>METHODS</b>The 9 X-chromosomal STR loci were analyzed with polymerase chain reation (PCR), followed by polyacylamide gel electrophoresis and silver staining. Software SPSS13.0, Genepop, Fstat and Powerstats were used to evaluate their polymorphism diversity and potential forensic application.</p><p><b>RESULTS</b>Allele frequencies and genotype frequencies of 99 unrelated Ewenki individuals were obtained. Among the 9 loci, DXS6789, HPRTB showed less polymorphism and diversity in the population. The diversity of DXS7132 has no statistical difference between Ewenki population and other 4 Asian populations.</p><p><b>CONCLUSION</b>Except DXS6789, HPRTB, the other 7 X-chromosomal STR loci are appropriate for individual identification, paternity test involving a female child, and studies on related disease. DXS7132 should be excluded when being used to distinguish diversity difference among populations.</p>

Study on SNP polymorphism of mitochondrial DNA D-loop region from Nu ethnic population in Yunnan of China / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the mitochondrial single nucleotide polymorphism (SNP)of Chinese Nu ethnic population from Yunnan region of China and to provide basic database for ethnic origin investigation and forensic purpose.</p><p><b>METHODS</b>Genomic DNA from the whole blood of 87 unrelated individuals was extracted by standard chelex-100. The sequence polymorphism was analyzed by PCR-based assay and using ABI 3730 Analyzer to detect many number of relatively common point mutations.</p><p><b>RESULTS</b>Sixty-two SNP loci were observed among them with 492 point mutations and 59 haploids identified in mitochondrial DNA hypervariable region I (mtDNA HVSI). The gene diversity was estimated to be 0.9675,and the random match probability was calculated to be 0.0437.</p><p><b>CONCLUSION</b>The result suggests that mtDNA HVSISNP database of Nu ethnic population can be a useful tool for forensic identity and original research.</p>

Validation the haplotype polymorphisms of the DXS7424-DXS101 on X-chromosome / 法医学杂志

OBJECTIVE@#To validate the genetic characteristics and distribution of DXS7424-DXS101 on X chromosome in Han population.@*METHODS@#DXS7424 and DXS101 loci were genotyped by PCR, PAGE and silvers stain methods. Their genetic parameters were analyzed by Arlequin software.@*RESULTS@#There were 37 haplotypes detected in 151 Han unrelated males. The frequencies ranged from 0.0066 to 0.1391, with a GD value of 0.9453 and a DP value of 0.9389. Haplotypes 16-23 were the most common haplotypes in Han population.@*CONCLUSION@#Analysis of combined DXS7424 and DXS101 haplotypes appears to be a powerful means in population genetics and forensic practice for determination of identity and paternity.