Distribution Of NUDT15 Gene Polymorphism In Uygur,Kirgiz And Dai Populations

Objective Study the distribution of NUDT15 gene polymorphism in the ethnic minority population in China,and provide a reference for individualized use of thiopurine.Methods 118 cases of Uyghurs,128 cases of Kirgizs in Xinjiang and 152 cases of Dais in Yunnan were collected and analyzed NUDT15 genotype among then,also they were maken a difference with the distribution of NUDT15 c.415 C> T genotypes in the Han,Bai,Yi and Guiyang ethnic groups that have been studied by this hospital analysis.Results The mutation frequency of the T allele is highest in the Han population in China,up to 13.07%,and there is no significant statistical difference from the mutation frequency reported in other Asian countries(?2 = 5.537,P = 0.136> 0.05).The distribution of NUDT15 c.415 C> T genotype among ethnic minorities has racial differences(?2 = 20.387,P = 0.002 <0.05).Among them,among Uygur,Kirgiz,Bai,NUDT15 c.415 C > T mutant(CT heterozygous & TT homozygous mutant)distribution has no obvious racial difference with the Han population,while it has among Dai and Yi populations compared with the Han population,which further proves the racial difference of the NUDT15 gene polymorphism;Compared between each minority group,it is found that there are ethnic differences among the NUDT15 c.415 C> T genotype in Ke & Dai,Dai & Bai and Yi & Bai,while others are no differences;The destructive variant p.P46R(c.137C>G heterozygous mutation + c.138T> G heterozygous mutation)is newly discovered in this study,which results in poor protein stability and low NUDT15 enzyme activity.Conclusion The distribution of NUDT15 gene polymorphism in China's Han and ethnic minority populations has ethnic and geographical differences.According to different regions and ethnic groups in China,selective NUDT15 genotype testing can not only effectively guide the individualized use of thiopurines,can also save medical costs and reduce the financial burden of patients.