Genetic polymorphisms and haplotype structures of HSPA5 gene in the Han population of Southern China

Tissue Antigens. 2009 Nov;74(5):420-3. doi: 10.1111/j.1399-0039.2009.01333.x.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3' Untranslated Regions / genetics
  • China / ethnology
  • DNA Mutational Analysis
  • Endoplasmic Reticulum Chaperone BiP
  • Genetics, Population
  • Haplotypes
  • Heat-Shock Proteins / genetics*
  • Humans
  • Linkage Disequilibrium
  • Polymorphism, Genetic* / physiology

Substances

  • 3' Untranslated Regions
  • Endoplasmic Reticulum Chaperone BiP
  • HSPA5 protein, human
  • Heat-Shock Proteins