Study On The Mitochondrial Genemo Of Yao Nationnality

Objective Based on genome-wide sequencing,this study researched the genetic polymorphism locus and its relationship with known disease loci in the mitochondrial genome of the Yao population,and evaluated the heterogeneity of polymorphic loci,Grasp the Yao nationality-specific genetic markers,provide a useful basis for the accurate treatment of disease and prevent disease.In addition,the mt DNA copy number,mitochondrial function and the mt DNA copy number of different population were studied.Mitochondrial function can be evaluated according to the change of mt DNA copy number and the occurrence and development of mitochondrial diseases can be predicted and evaluated,which is helpful for the diagnosis and treatment of disease.Methods We have incorporated 111 Yao individuals from three different geographical areas(including Hezhou,Hunan,and Jinxiu).The peripheral blood of the selected subjects was extracted and subjected togenome sequencing and bioinformatics statistics and analysis.The whole genomic sequencing data for China Beijing Han nationality(hereinafter referred to as CHB),China Southern Han(hereinafter referred to as CHS),China's Xishuangbanna Dai(hereinafter referred to as CDX),Japan Tokyo(hereinafter referred to as JPT)were downloaded from the webside for 1000 genome project and were used to compare the polymorphism of mitochondrial genome gene and copy number with Yao population.Results The distribution characteristics of mitochondrial genomic gene polymorphism and the frequency of disease-related loci and the data of mitochondrial copy number of Yao were obtained.1.Yao mitochondrial genome range were detected 379 gene mutation loci,of which 21(5.5409%)were located in the t RNA gene,35(9.2348%)were located in the r RNA gene,97(25.5973%)were located in the D-loop region,226(59.6306%)located in the protein_coding region.CHB,CHS,CDX and JPT mitochondrial gene variation in r RNA,t RNA,Dloop,protein_coding composition and Yao are basically similar.There was no significant difference in mitochondrial gene variation between Yao and CHB,CHS,CDX and JPT(P> 0.05).2.33 disease related mitochondrial genomic loci were detected in the Yao population,including 19 loci which minimum allele frequency greater than 0.05.And 12 loci have significant difference between YAO with each other population,they were: C150 T ? T195 C ? T310 TC ?C5178A?C8414T?A10398G?G12372A?C14668T?G15043A?C16192T?G16390A?T16519T.3.Three heterogeneous sites N3107 C,A4195C,A5208 C were detected in YAO,the frequency of the heterogeneity were(0.1351,0.0270,0.1351).A4195 C,A5208C may be the unique heterogeneous sites for YAO.4.The mt DNA copy number in the Yao population was normal distribution,roughly concentrated in the distribution of 200-300 copies.5.There was no significant correlation between mt DNA copy number with sex and age(P> 0.05).6.Yao mt DNA copy number were lower than CHB,CHS,CDX,JPT four groups(p <0.001).Conclusion There are multiple disease-related loci in Yao population,and there are specific sites.YAO mt DNA copy number is different from other population.1,The distribution of mitochondrial gene variation in the mitochondrial genome for Yao,CHB,CHS,CDX,JPT was not statistically significant,mainly distributed in the D-loop and protein coding area.2,Yao people detected the disease-related mitochondrial gene mutation sites,and there was a statistically significant difference among the population.Yao population may exist in its specific disease spectrum.3,A4195 C,A5208C are the unique heterogeneity loci of Yao in this study,and may be used as important genetic markers of Yao nationality.4,The copy number of mitochondrial DNA copy in Yao nationality is lower than that of CHB,CHS,CDX and JPT.The difference is statistically significant,which can lay the foundation for the study of mitochondrial copy number and disease phenotype.