Genetic polymorphisms and haplotype structures of HSPA5 gene in the Han population of Southern China.
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.
Zhu
X
X
Shenzhen Center for Disease Control and Prevention, Shenzhen, PR China.
Cheng
J
J
Zhao
J
J
Chen
L
L
Hou
S
S
Zhao
G
G
Lan
F
F
Wang
W
W
Kung
H
H
He
M
M
D020413:3' Untranslated Regions / Q000235:genetics; D002681:China / Q000208:ethnology; D004252:DNA Mutational Analysis; D000091342:Endoplasmic Reticulum Chaperone BiP; D005828:Genetics, Population; D006239:Haplotypes; D006360:Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium; D011110:Polymorphism, Genetic / Q000502:physiology
D020413:3' Untranslated Regions; D000091342:Endoplasmic Reticulum Chaperone BiP; C000717247:HSPA5 protein, human; D006360:Heat-Shock Proteins