X Zhu, J Cheng, J Zhao, L Chen, S Hou, G Zhao, F Lan, W Wang, H Kung, M He
{"title":"Genetic polymorphisms and haplotype structures of HSPA5 gene in the Han population of Southern China.","authors":"X Zhu, J Cheng, J Zhao, L Chen, S Hou, G Zhao, F Lan, W Wang, H Kung, M He","doi":"10.1111/j.1399-0039.2009.01333.x","DOIUrl":null,"url":null,"abstract":"<p><p>The heat shock 70 kDa protein 5 (HSPA5) gene is known to be involved in stress-associated diseases. In this study, the promoter, exons, 3' untranslated region (3'UTR), and subtotal introns of the HSPA5 gene were sequenced in a sub-population of 161 healthy Han Chinese. Nine single-nucleotide polymorphisms (SNPs) including a new one (-86bp T > A from the estimated translation start site) were found and 15 haplotypes (frequencies > 1%) were inferred. Polymorphisms rs391957 and rs11355458 were completely linked in our population (r (2) = 1.00). Using this information, fellow scientists may be able to decrease the number of SNPs to be genotyped in future disease case-control studies.</p>","PeriodicalId":23105,"journal":{"name":"Tissue antigens","volume":"74 5","pages":"420-3"},"PeriodicalIF":0.0000,"publicationDate":"2009-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1111/j.1399-0039.2009.01333.x","citationCount":"2","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Tissue antigens","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1111/j.1399-0039.2009.01333.x","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 2
Abstract
The heat shock 70 kDa protein 5 (HSPA5) gene is known to be involved in stress-associated diseases. In this study, the promoter, exons, 3' untranslated region (3'UTR), and subtotal introns of the HSPA5 gene were sequenced in a sub-population of 161 healthy Han Chinese. Nine single-nucleotide polymorphisms (SNPs) including a new one (-86bp T > A from the estimated translation start site) were found and 15 haplotypes (frequencies > 1%) were inferred. Polymorphisms rs391957 and rs11355458 were completely linked in our population (r (2) = 1.00). Using this information, fellow scientists may be able to decrease the number of SNPs to be genotyped in future disease case-control studies.