杨应忠，韵海霞，王亚平，胥 瑾

    (青海大学医学院)

    杨应忠(1977~)，男，汉族，青海籍，副教授

    中国汉族高原肺水肿EPAS1基因多态性研究

    杨应忠，韵海霞，王亚平，胥瑾

    (青海大学医学院)

    摘要目的探讨EPAS1基因与高原肺水肿易感性的相关关系。方法选取135例HAPE患者，137例健康平原对照者，135例玉树藏族健康对照者。采用iMLDR技术对EPAS1基因的rs10193827、rs10206434、rs11675232、rs13006131、rs13419896、rs1562453、rs17035010、rs1868092、rs1992846、rs4953354、rs4953359、rs4953361、rs6544889、rs7571218、rs7589621、rs7598371多态性位点在三组样本中进行SNP分型。结果rs10193827、rs11675232、rs13419896、rs17035010、rs1992846、rs4953359、rs6544889、rs7589621、rs10206434、rs13006131、rs1562453、rs1868092、rs4953354、rs4953361、rs7571218、rs7598371的基因型CC、TT、GG、TT、TT、TT、AA、AA、GG、CC、CC、GG、AA、GG、AA、GG在汉族普遍，而与其对应的反向纯合子则在藏族中普遍，差异有显著性(P

    Table 1 PCR primer sequences for EPAS1 SNPs genotyping

    Table 2 The probe sequence for EPAS1 SNPs genotyping.

    Statisticalanalysis

    Statistical analyses were performed using the SPSS software(version 17.0，SPSS，Inc，Chicago，USA).Categorical values were presented as number(n)and percentage(%).Hardy-Weinberg equilibrium as well as genotypes and alleles distributions between groups were tested by chi-square test.The odds ratio ......