X chromosomal short tandem repeats(X-STRs)have the characteristics of both autosomal and uniparental genetic markers and have been shown to be particularly useful in forensic casework.However,relevant research or repo...X chromosomal short tandem repeats(X-STRs)have the characteristics of both autosomal and uniparental genetic markers and have been shown to be particularly useful in forensic casework.However,relevant research or reports have not focused on X-STRs in the Hani population.To investigate the genetic variation and forensic efficiency of 16 X-STR loci in the Hani ethnic minority,we calculated the allele frequencies and forensic parameters of 451(116 males and 335 females)unrelated healthy Hani individuals from Yunnan Province,Southwest China.All these loci are highly polymorphic in Hani individuals in Yunnan Province except DXS6800.The combined power of discrimination in males(PDM)and power of discrimination in females(PDF)were found to be 0.999999998433993 and 0.999999999999998,respectively.Furthermore,a population genetic structure investigation between the Yunnan Hani population and another 18 populations was performed using a principal component analysis,multidimensional scaling plot and neighbouring-joining phylogenetic tree and the findings illustrated that neighbouring populations and different nationalities in the same area appeared to have a closer evolutionary relationship.This study provides the first batch of X chromosome genetic polymorphism data of the Hani population in Yunnan Province,Southwest China and enriches the reference database of the Chinese minority population.展开更多
The association of polymorphisms in exon 1 of the WNK1 gene with essential hypertension in the minority groups of Hani and Yi of China was investigated in the case-control study.The sequence of 1257 bp containing the ...The association of polymorphisms in exon 1 of the WNK1 gene with essential hypertension in the minority groups of Hani and Yi of China was investigated in the case-control study.The sequence of 1257 bp containing the WNK1 gene exon 1 was determined in 1307 individuals(649 essential hypertension subjects and 658 controls)to identify SNPs in Hani and Yi minority groups.Four of eleven previously known SNPs (rs3168640,rs11885,rs11554421 and rs34880640)were identified.The SNP analysis indicated that SNPs rs11885 and rs11554421 were significantly associated with hypertension in both Hani and Yi populations,and rs34880640 was significantly associated with hypertension in Hani but not in Yi population,adjusted for covariates.Haplotype analysis indicated that the haplotype H1 significantly decreased the risk of hypertension in both populations.These results suggested that WNK1 polymorphisms were involved in the predisposition of essential hypertension in Hani and Yi populations and its effects showed a clear population specificity.This finding supported the importance of population specificity in determining the genetic factors associated with diseases and thus disease treatment.展开更多
基金This work was supported by the National Natural Science Foundation of China[grant numbers 81860258 and 31860300]Joint Special Funds for the Department of Science and Technology of Yunnan Province-Kunming Medical University[grant numbers 2017FE467(-022),2018FE001(-131)and 2019FE001(-011)]+3 种基金Yunnan Educational Science Foundation program[grant numbers 2018JS170 and 2018JS171]Yunnan Provincial Young Academic and Technical Leader Reserve Talent Project[grant number 2018HB104]Hundred-Talent Program of Kunming Medical University[grant number 60117190447]Science and Technology Innovation Group of Kunming Medical University[grant number CXTD201803].
文摘X chromosomal short tandem repeats(X-STRs)have the characteristics of both autosomal and uniparental genetic markers and have been shown to be particularly useful in forensic casework.However,relevant research or reports have not focused on X-STRs in the Hani population.To investigate the genetic variation and forensic efficiency of 16 X-STR loci in the Hani ethnic minority,we calculated the allele frequencies and forensic parameters of 451(116 males and 335 females)unrelated healthy Hani individuals from Yunnan Province,Southwest China.All these loci are highly polymorphic in Hani individuals in Yunnan Province except DXS6800.The combined power of discrimination in males(PDM)and power of discrimination in females(PDF)were found to be 0.999999998433993 and 0.999999999999998,respectively.Furthermore,a population genetic structure investigation between the Yunnan Hani population and another 18 populations was performed using a principal component analysis,multidimensional scaling plot and neighbouring-joining phylogenetic tree and the findings illustrated that neighbouring populations and different nationalities in the same area appeared to have a closer evolutionary relationship.This study provides the first batch of X chromosome genetic polymorphism data of the Hani population in Yunnan Province,Southwest China and enriches the reference database of the Chinese minority population.
基金financially supported by the National Nature Science Foundation of China (Nos. U0932603 and 3091112048)the Natural Science Foundation of Yunnan Province (No. 2009CC001).
文摘The association of polymorphisms in exon 1 of the WNK1 gene with essential hypertension in the minority groups of Hani and Yi of China was investigated in the case-control study.The sequence of 1257 bp containing the WNK1 gene exon 1 was determined in 1307 individuals(649 essential hypertension subjects and 658 controls)to identify SNPs in Hani and Yi minority groups.Four of eleven previously known SNPs (rs3168640,rs11885,rs11554421 and rs34880640)were identified.The SNP analysis indicated that SNPs rs11885 and rs11554421 were significantly associated with hypertension in both Hani and Yi populations,and rs34880640 was significantly associated with hypertension in Hani but not in Yi population,adjusted for covariates.Haplotype analysis indicated that the haplotype H1 significantly decreased the risk of hypertension in both populations.These results suggested that WNK1 polymorphisms were involved in the predisposition of essential hypertension in Hani and Yi populations and its effects showed a clear population specificity.This finding supported the importance of population specificity in determining the genetic factors associated with diseases and thus disease treatment.