HGD-Chn: The Database of Genome Diversity and Variation for Chinese Populations.

The Database of Genome Diversity and Variation for Chinese Populations is toward a more efficient utilization and sharing of the valuable yet diminishing genetic resources in China (including sample information of healthy populations, healthy pedigrees, disease population and disease pedigrees; genomic diversity data; disease-related allelic and haplotype data). Organization of the database can be divided into two parts: (1) Genetic resources of healthy people--Organizing genetic resources of healthy people. A variety of genetic markers (VNTR, STR, SNP, HLA, and enzyme markers, etc.) are chosen for their diversity among populations, with their distribution among different ethnic groups in China stored in the form of allelic frequency. A further analysis as well as an overall description of the Chinese population genetic structure is also being made possible. (2) Disease genetic resources--Four categories are mainly concerned: chromosomal diseases, monogenic diseases, polygenic diseases, and birth defects. For each kind of disease, the basic introduction and description, sample information, and allelic data of related gene are involved. Aside from research-oriented information, introductory courses oriented at general public covering fields of genomic diversity and variation, the related experimental techniques, standards and specifications could also be accessed in our website. Further more, flexible query and submit system with user-friendly interfaces are also integrated in our website to simplify the process of user-query and administrators' database maintenance work. Online data analyzing and managing tools are developed using bioinformatics algorithm and programming language for a better interpretation of the biological data.

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.

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>

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>