移居青海高原汉族HIF-1α基因rs11549467多态性与慢性高原病易感性

RELATIONSHIP BETWEEN HIF- 1α GENE rs11549467POLYMORPHISM AND CHRONIC MOUNTAIN SICKNESS IN HAN CHINESE MIGRATED TO QINGHAI PLATEAU

目的探讨移居青海高原汉族HIF-1α基因rs11549467单核苷酸多态性与慢性高原病(chronic mountain sickness,CMS)易感性。方法收集移居青海高原汉族CMS男性患者和体检健康男性各120例,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)法检测HIF-1α基因rs11549467位点多态性,基因突变者采用测序验证,分析其与CMS的易感性。结果 HIF-1α基因rs11549467位点存在G、A两个等位基因和GG、GA两种基因型,病例组和对照组各基因型及等位基因频率比较均无显著性差异,P>0.05。结论移居青海高原汉族人群HIF-1α基因rs11549467位点基因多态性可能与CMS易感性无关。

Objective To explore the relationship between the single nucleotide polymorphism （SNP） rs11549467of hypoxia inducible factor- 1 alpha（ HIF- 1 α）gene and chronic mountain sickness（CMS） in Han Chi- nese migrated to Qinghai plateau. Methods 120 patients with CMS were selected as case group and 120 healthy vol- unteers were matched as control group. Genotypes were identified with a combination of polymerase chain reaction - restriction fragment length polymorphism（ PCR- RFLP）. The mutation genotype were tested by gene sequencing. Results G and A allele types, GG and GA genotypes were identified in the populations. The distribution of the fre- quencies of genotypes and alleles in the two groups showed no significant difference （ P 〉 0.05 ）. Conclusion HIF - 1α gene rs11549467 polymorphism have probably no relationship with CMS in Han Chinese migrated to Qing- hai plateau.