X Zhu, J Cheng, J Zhao, L Chen, S Hou, G Zhao, F Lan, W Wang, H Kung, M He
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引用次数: 2
摘要
已知热休克70 kDa蛋白5 (HSPA5)基因与应激相关疾病有关。本研究对161名健康汉族人群的HSPA5基因启动子、外显子、3'非翻译区(3' utr)和内含子亚总数进行了测序。共发现9个单核苷酸多态性(SNPs)，其中包括一个新的多态性(来自估计的翻译起始位点-86bp T > a)，并推断出15个单倍型(频率> 1%)。多态性rs391957和rs11355458在人群中完全连锁(r(2) = 1.00)。利用这些信息，同行的科学家们可能能够在未来的疾病病例对照研究中减少基因分型的snp数量。
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.
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