熊辉霞，李占全，崔　森，杨应忠

(1.青海大学附属医院血液科，青海 西宁 810000；2.青海大学高原医学研究中心，青海 西宁 810001)

熊辉霞(1977～)，女，汉族，硕士，副教授

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※

熊辉霞1，李占全1，崔森1，杨应忠2

(1.青海大学附属医院血液科，青海 西宁 810000；2.青海大学高原医学研究中心，青海 西宁 810001)

摘要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。

※：青海省自然科学基金(No.2011-Z-927Q)

关键词慢性高原病缺氧诱导因子1α单核苷酸多态性

中图分类号R394.5

文献标识码识码A

DOI：10.13452/j.cnki.jqmc.2015.02.006

AbstractObjectiveTo explore the relationship between the single nucleotide polymorphism(SNP)rs11549467of hypoxia inducible factor-1alpha(HIF-1α)gene and chronic mountain sickness(CMS)in Han Chinese migrated to Qinghai plateau.Methods 120 patients with CMS were selected as case group and 120 healthy volunteers 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 frequencies 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 Qinghai plateau.

KeywordsChronic mountain sicknessHypoxia-induciblefactor-lα Single nucleotide polymorphism

收稿日期2015-02-03

RELATIONSHIP BETWEEN HIF-1α GENE rs11549467

POLYMORPHISM AND CHRONIC MOUNTAIN SICKNESS IN HAN

CHINESE MIGRATED TO QINGHAI PLATEAU

Xiong Huixia1，Li Zhanquan1，Cui Sen1，Yang Yingzhong2

(1.Department of Hematology，The Affiliated Hospital of Qinghai University，Xining，Qinghai 810000；

2.Research Center for High Altitude Medical Sciences of Qinghai University，Xining，Qinghai 810001)

在同一海拔地区，移居人群的慢性高原病(chronic mountain sickness，CMS)发病率显著高于世居人群[1，2]，Jiang等[3]报道移居青藏高原汉族CMS的发病率高达26.5%(海拔3700 ～5380m)。青海地区平均海拔3000 m以上，随着移居高原汉族人口急剧增加，CMS发病率亦呈上升趋势。阐明CMS的发病机制和寻找有效的防治措施已经成为一个亟待解决的问题。HIF-1α是机体缺氧反应中最重要的转录调控因子，其表达水平和基因多态性可能对下游基因的表达有明显的影响，继而影响机体对高原低氧环境的习服适应。因此……