Detection of Ancestry Information of Urumqi Mongolians Based on the AIM-InDels Loci Multiplex System / 法医学杂志

Objective To explore the genetic background and structure of Urumqi Mongolians, the previously developed 39-AIM-InDels panel for ancestry inference was utilized in the present study. Methods The blood samples of 145 unrelated healthy Urumqi Mongolian individuals were collected and genotyped. The compositions of ancestry information of Urumqi Mongolians were studied with 17 different populations from three continents （East Asia, Europe and Africa） as reference populations. Then, multiple population genetics and bioinformatics analysis methods were applied, the Fst and DA values between matched populations were compared and analyzed, PCA analysis was performed and a phylogenetic tree was constructed. The proportions of ancestry information components of Urumqi Mongolians were analyzed with Structure software, etc. Results The ancestry information components of Urumqi Mongolian group in different intercontinental populations accounted for 89%, 7%, and 3% of East Asian, European, and African populations, respectively. Compared with other intercontinental populations, Urumqi Mongolian group and East Asian populations have lower Fst and DA values, and they were in the same cluster in PCA analysis as well. In a phylogenetic tree, the Urumqi Mongolian group was in the same branch as East Asian populations. Conclusion Urumqi Mongolian group had relatively close genetic relationships with East Asian populations, and the proportion of its East Asian ancestry was about 89%.

HLA-B*15 gene polymorphism of registered bone marrow from donors in north Chinese Han population typed by PCR-SBT / 中国实验血液学杂志

To investigate the characteristics of the allele distribution of HLA-B*15 gene family in Chinese Han population and to study its influence on the selection of clinical transplantation donor, population of a 815 Han in north China from Shaanxi sub-registry of Chinese National Marrow Donor Project was randomly selected and out of them 206 HLA-B*15 positive samples according to the previous known low-resolution typing results were acquired. HLA-B*15 gene polymorphisms of above-mentioned samples and other 17 individuals were analyzed for the first time by polymerase chain reaction sequence-based typing (PCR-SBT) at high-resolution level. The structure differentiation of all HLA-B*15 alleles were analyzed by HLA three-dimensional structure modeling and software Swiss-PdbViewer. The results showed that the distribution of HLA-A, -B, -DRB1 gene of randomly selected 815 samples accorded with Hardy-Weinberg equilibrium and the gene frequency of HLA-B*15 was 0.1379. There were a total of 16 kinds of alleles of HLA-B*15 gene family to be obtained, which belonged to 7 kinds of serologic specificities. HLA-B*1501, B*1511, B*1502 and B*1518 were the major alleles with a frequency of 0.0485, 0.0215, 0.0178 and 0.0160 respectively, and the constituent ratio of their accumulated frequencies was 75.11%. The each frequency of the other 12 kinds of B*15 alleles was lower than 0.0100. Among the homozygote of 10 samples at low/medial-resolution level, there were only 4 samples to be pur sang homozygote of HLA-B*15xx, --at high-resolution level, and all the homozygote were constituted by respective dominating alleles. HLA three-dimensional structure modeling demonstrated that within the same specificity, gentle structure differentiation not only existed, such as B*1501, 1505, 1507, 1525, 1527, 1532 (each RMSD<or=0.02 nm), but also presented significant structure differentiation, such as B*1502, 1511, 1521 and B*1503, 1546 (each RMSD=0.29 nm). However, some alleles belonged to different specificities showed similar structure with RMSD<or=0.02 nm. It is concluded that the characteristics of HLA-B*15 gene polymorphism defined by PCR-SBT with the largest sample size up to now is unique in north Chinese Han population. The study will be helpful to find suitable donors for patients and establish the important foundation for further studying transplantation immunity and population genetics in this area. To select the optimal donor, it is necessary for gene family with high polymorphism like HLA-B*15 to type accurately at high-resolution level.

Genetic polymorphism of 9 STR loci in Han nation population in Shandong Province / 中国医学科学院学报

<p><b>OBJECTIVE</b>To study genetic polymorphism of 9 STR loci in Han nation population in Shangdong Province.</p><p><b>METHODS</b>We investigated 100 unrelated individuals of Han nation population in Shandong Province and studied their genetic distribution of 9 STR loci and Amelogenin locus. Primers of 10 loci were labeled with the NHS-ester fluorescent dye 5-FAM (blue), Joe (green) or NED (yellow). The data of Han nation population were generated by multiple amplification and subjected to GeneScan, genotype and genetic distribution analysis.</p><p><b>RESULTS</b>83 alleles and 220 genotypes were observed, with the corresponding frequency of 0.0050-0.4050 and 0.0100-0.2100. The average of heterozygosity was 0.7778, the accumulated discrimination power was 0.9999. The accumulated probability of exclusion paternity was 0.9999. The polymorphism information content was 0.5823-0.8396.</p><p><b>CONCLUSIONS</b>Chi-Square test indicated that the distribution of genotypes agreed with Hardy-Weinberg equilibrium.</p>