Study On Genetic Polymorphism And Its Application Value Of 30 InDel Loci In Fujian Han Population

Objective: The thesis is to explore the genetic polymorphism of 30 Indel loci in Fujian Han population and to evaluate its application value of Investigator®DIPplex system in genetics analysis of Fujian Han population.Methods:(1)DNA of 300 unrelated healthy individuals(male150,female150) of Fujian Han population was randomly extracted and amplified by 30 Indel loci multiplex PCR system. Then PCR products were separated and genotyped with capillary clectrophoresis and fluorescence detection technology.( 2) Allele frequencies, heterozygosity, discrimination power and polymorphism information content of the 30 Indel loci were statistically calculated.(3)The genetic parameters distribution of 30 insertion and deletion loci were compared between Fujian Han population and populations at home and abroad which were analyzed by reference to domestic and foreign literatures. Allele frequency distributions of 30 insertion and deletion loci were compared between Fujian Han population and other populations. The thesis is to analyze the differences of allele in insertion and deletion loci.Results:(1) The deletion allele frequency of the 30 In Del loci in Fujian Han population was 0.062~0.902 and the average was 0.511. The heterozygosity(Ho)was 0.117~0.540 and the average was 0.401. The power of discrimination(DP) was 0.212~0.638 and the average was 0.549. The polymorphism information content(PIC)was 0.110~ 0.370 and the average was 0.318. It was found that the minimum value of F(del), HO, DP, PIC and PE in Han population were all in HLD118 and the minimum value were 0.062,0.117, 0.212, 0.11 and 0.011 respectively.(2) The cumulative probability of paternity exclusion of 30 Indel loci was 0.984420473 and the cumulative power of discrimination was 0.999999999979.(3) All the 30 In Del loci showed no significant departure from Hardy-Weinberg equilibrium(P >0.05)in Fujian Han population in China.(4) It wasfound that the minimum value of F(del)、HO、DP、PIC、PE in Fujian Han population and other four Han populations were all in HLD118 and the value of F(del), HO, DP, PIC and PE were relatively low in HLD111、HLD99、HLD39.(5) â‘  Among the 30 insertion and deletion loci, there were statistical differences(P <0.05) in 17 loci by comparing the loci in Fujian Han population with that in other four domestic Han populations. It was found that there were statistical differences in HLD101 by comparing the loci in Fujian Han population with that in the Han populations in Beijing area, East China area and Taiwan area.â‘¡ There were statistical differences in 25 loci by comparing the loci in Fujian Han population with that in other four ethnic minorities in our country.(P <0.05) It was found that there were statistical differences in HLD122 by comparing the loci in Fujian Han population with that in the populations in Tibet, Uyghur and hazakh.â‘¢There were statistical differences(P <0.05) in allele frequency distributions of HLD131 and HLD124 by comparing allele frequency distributions of Fujian Han population with that of two Asian populations, South Korea and Japan. There were significant statistical differences(P=0.000) in allele frequency distributions of HLD131, HLD111, HLD118, HLD99, HLD114 and HLD125 by comparing allele frequency distributions of Fujian Han population with that of the populations in Europe, America, Germany and Africa.Conclusions:(1) There are relatively high genetic polymorphism and some differences of the allele frequency and gene diversity of 30 In Del loci included in Fujian Han population, which might contribute to promoting the study of the genetics in Fujian Han population.(2) The genetic polymorphism of HLD118, HLD111, HLD99 and HLD39 in Fujian Han populations are all low, which provides design ideas for developing the more effective Investigator®DIPplex detection system in the future.(3) Among the 30 Indel loci, there is application value in the genetic diversity of HLD101 between the Fujian Han populations and other domestic Han populations. HLD122, HLD131, HLD118, HLD99, HLD88, HLD67, HLD64, HLD133, HLD40, HLD39, HLD84, HLD131, HLD124 and so on has great significance for the study on the genetic diversity among the Fujian Han population, domestic ethnic minorities and other populations in Asia.(4) CDP of 30 In Del loci included in Fujian Han population meetthe requirements for the individual identification testing and CPE of 30 In Del loci was low, so it could be applied to the study on genetics of individual identification independently..Investigator®DIPplex kit might be used as a valuable supplement to the parentage testing in Fujian Han population.