Y-chromosome And Mitochondrial Genetic Diversity Analysis Of Three Isolated Populations In Xinjiang

Xinjiang is located in the hinterland of Eurasia.It has been a link between eastern and Western civilizations since ancient times.The genetic diversity of the population in Xinjiang is the result of the exchange and integration of the East and west population for a long time.It is also an indispensable part of the overall genetic constitution of the Chinese nation,and is a unique genetic resource in China.People living in Xinjiang,especially those who still rarely communicate with the outside world and are in a relatively isolated state of life,are valuable genetic resources for the study of gene exchange,environmental adaptation and high incidence of regional diseases.The systematic genetic diversity of Keriyan,Lopnur and Dolan in Xinjiang is studied.It is of great significance to study the migration and fusion of the population by using genomic data.It is of great significance to carry out the study of environmental adaptation and gene location of disease in the model of the isolated population in Xinjiang.Y-chromosome can only be passed from father to son,while Y-chromosome non recombination region(Y-NRY)is not paired with X-chromosome during meiosis,which makes it only accumulate mutation information through base mutation.By measuring the mutation markers of Y-NRY,the process of paternal inheritance can be traced.Y-chromosome single nucleotide polymorphism(Y-SNP)has strong regional specificity.The Y-chromosome haploid group types in different regions can be used to deduce population evolution,migration and related historical activities,which can effectively assess the genetic structure of populations.By analyzing the genetic diversity of the Y-chromosome of three isolated populations,the results showed that:12 haplogroups were detected from Keriyan with J2a1b1(25.64%),R1a1a1b2a(20.51%),R2a(17.95%)and R1a1a1b2a2(15.38%)high-frequently appeared.16 haplogroups were detected from Lopnur People with J2a1(43.75%),J2a2(14.06%),R2(9.38%)and L1c(7.81%)high-frequently appeared.40 haplogroups were detected from Dolan with R1b1a1a1(9.21%),R1a1a1b2a1a(7.89%),R1a1a1b2a2b(6.58%)and C3c1(6.58%)high-frequently appeared.Thesedata revealed the three isolated populations had closer genetic relationship with Uygur.Inparticular,there were no significant differences in haplotypeand frequency between the three isolated populations and Uygur(f=0.833,p=0.367).In addition,the haplotype and frequency in three isolated populations showed marked Eurasian mixing phenomenon with typical characteristics of the Central Asian population and this suited for forensic medicine.Human mitochondrial DNA(mt DNA)is the only hereditary substance outside the nucleus.It has a closed circular and full-length 16569 bp.It is composed of control area and coding area.The base polymorphism of control area makes the population highly specific.The polymorphism of this base can provide references for the evolution of the population.Mt DNA is characterized by high mutation rate,maternal inheritance,no recombination,multiple copies,and no influence on selective pressure,making mt DNA an important molecular carrier in anthropological research.The results of mt DNA genetic diversity analysis of three isolated populations showed that:Keriyan,Lopnur,Dolan mt DNA mutations were detected in 256,315,735,of which245,298,639 polymorphic locis were detected,the mutation rate of A263 G,A750G,A8860 G and A15326 G locis in three populations was 100%;Respectively,20 haplotypes were constructed from Keriyan with F1a1(15.71%),M8a2a1(12.86%),H1t(11.43%),M11a2(10.00%)high-frequently appeared.27 haplotypes were constructed from Lopnur with B5b2c(31.71%),H6a1b2(18.90%),D4c2a(13.41%)high-frequently appeared.100 haplotypes were constructed from Dolan,mainly concentrated in D,H,U and C haplotypes.The haplotype frequencies were not high,H2a1a(4.47%)was the highest.The haplotype diversity of three populations were0.9264,0.8360 and 0.9910,the average nucleotide paired difference number were30.2714,36.1220,32.5506,individual identification rate were 0.9132,0.8309,0.9854.The type and frequency of the three population haploid group are the closest with Uygur,and the relationship is most closely related.In addition,the mt DNA genetic structure of three populations shows a significant Eurasian mixed phenomenon,which is inseparable from the rise and decline of the Silk Road trade,and is the result of long-term gene integration.Essential hypertension(EH): a multifactor disease caused by some congenital genetic genes and many pathogenic factors and environmental factors.It is characterized by the inability to detect the exact cause of the rise of blood pressure.The research group survey questionnaire and physical index of Lopnur found the prevalence rate of hypertension is unusually high,according to rob basic clinical indicators and EH patients with complete mitochondrial genome association analysis results show that rob EH prevalence rate as high as 37.20%,age,BMI,waist circumference and EH have significant relevance;In the EH group,there were 235 heterotopic sites in the mitochondrial genome,10 of which were not reported,253 in the control group,13 of which were not reported.The 70 mutations were found only in group EH,which may be directly related to the occurrence of essential hypertension.The 87 mutations were found only in the control group.These loci may inhibit the occurrence of essential hypertension.The t RNA mutations such as t RNAArg T10410 C,t RNALeu A12308 G,t RNAThr A15951 G may be associated with EH;Mitochondrial protein gene mutations such as ND1(G3316A,G3438 A,T4248C),ND2(A4824G,C4919 T,T4937C),COI(T5964C,C6104 T,G6734A,G6852 A,A6881G,COII(T7954C,G8020A),ATPase8(T8473C),ATPase6(A8633G,C8794T),COIII(G9477A,C9536 T,A9632T,A9667G),ND3(C10181T),ND4(C11215T,A11467G),ND5(C12346T,G12372 A,T13617C,C13720 T,A13857G,T14287 C,G14305A,T14319 C,T14470C),Cytb(A14793G,C14815 T,A14927G,T14979 C,T15440C,C15448 A,G15596A,A15758G)may have significance of the further research on EH.