The Application Of Human DNA Binary Genetic Markers In Forensic Genetics And Disease Research

According to the recommendation of NRC II,the development of databases on various genetic markers focused on the population data of different ethnicities could elevate the accuracy.The research investigated the genetic polymorphisms of bi-allelic genetic markers in Chinese populations,such as KIRs in Jiangsu Han population and In Del in Yunnan Bai group.Also,we evaluated the protecting role of KIR2DS4 in PAH.Furthermore,we provided the statistical evidences concerning the variety of 30 In Del in population discrimination and individual identification.Killer cell immunoglobulin-like receptor genes,namely KIRs,cluster together within the 160 kb genomic DNA region.In this study,we successfully identified the genotype of 17 KIR genes in 123 independent healthy donors residing in the Jiangsu province,China.All individuals were positive at the 7 genes.The observed carrier gene frequencies(OFs)of remaining 10 KIRs ranged from 14.63%(KIR2DS3)to 95.93%(KIR3DL1).We found 27 distinct genotypes excluding KIR1 D.The most frequent occurred in 63 individuals(51.22 %).The phylogenetic reconstruction and cluster analysis strongly indicated a genetically close relationship between Eastern Han and Jilin Han.In conclusion,the present study provided a meritorious resource of KIR genotyping for population genetics.Also,efforts were made to investigate the potentially immunological role of KIR genes in the pathophysiological process of Pulmonary Arterial Hypertension(PAH).This research aimed to assess the associations of KIR genes and objective subgroup classifications with PAH patients,compared with healthy controls.We typed the diversity of 17 KIR genes in 103 non-idiopathic PAH patients and found out the discrepancies of significance between patients and 393 controls,both of Eastern Chinese Han extraction.KIR2DS4(full length)positive NK cell subgroup was finally proved to be important tools against PAH disease and further studies on mechanisms to confirm this observation are essential.Thirty insertion/deletion loci were utilized to study the genetic diversities of 125 bloodstain samples collected from Bai group in Yunnan Dali region,China.The observed heterozygosity and expected heterozygosity of the 30 loci ranged from 0.1520 to 0.5680,and 0.1927 to 0.4997,respectively.No deviations from Hardy-Weinberg equilibrium tests after Bonferroni correction were found at all 30 loci in Bai group.The cumulative probability of exclusion and combined discrimination power were 0.9859 and 0.9999999999887,respectively,which indicated the 30 loci could be used as complementary genetic markers for paternity testing and were qualified for personal identification in forensic cases.We found the studied Bai group had close relationships with Tibetan,Yi and Han groups from China by the population STRUCTURE,principal component analysis,population differentiations,and phylogenetic reconstruction studies.Even so,for a better understanding of Bai ethnicity's genetic milieu,DNA genotyping at various genetic markers is necessary in future studies.For comprehensive understanding of practical application and evaluation on power of 30 commonly used In Del(Qiagen Investigator DIPplex? kit),we captured population data from 43 populations and employed novel F-statistics for population genetics analysis.The results indicated the distributions of allelic frequencies among different continents were in different levels.Also,the phylogeny conforming to pairwise FST distances and population-specific FST showed albeit that several pairwise relationships were elusive,the differentiations of majority populations were consistent with their geographic locations and historic dispersals.We conducted the comprehensive correlation analysis between FST and He of 30 In Del loci and provided strong evidence for ongoing In Del loci selection.The FST values of 30 In Del were calculated within 40 world-wide populations and 25 Chinese populations and then these loci were characterized definitely based on their roles in population genetics or individual identification.The data indicated that 21 In Del with FST > 0.05 were suitable for discriminating continental groups and 17 In Del with FST < 0.01 could be utilized in terms of Chinese individual identification(cumulative discrimination power = 0.999985,cumulative matching probability = 0.00000009).We comprehensively reconstructed the population STRUCTURE and filled the gap of evaluating the ability of In Del in population identification.