原发性高血压病胰岛素受体基因的分析

Detection of Mutation in Insulin Receptor Gene in Patients with Essential Hypertension

应用聚合酶链反应／单链构象多态性分析了４６例高血压患者和４９例正常血压对照者胰岛素受体基因第１７外显子的多态性，显示３种不同的ＳＳＣＰ带型，分别称为Ⅰ、Ⅱ、Ⅲ带型。其中带型Ⅰ在高血压和对照组的出现频率分别为５４．３％和３２．７％（Ｐ＝０．０５），两组间有差异；带型Ⅱ在高血压和对照组的频率分别为２６．１％和６１．３％（Ｐ＜０．０１）；带型Ⅲ两组间无差异。根据ＰＣＲ直接测序结果，带型Ⅰ的第１０４０位编码基因为ＧＡＧ而带型Ⅱ第１０４０位编码基因为ＧＡＡ，提示ＧＡＡ１０４０可能是原发性高血压病易感的基因标志。

We have analyzed single-stranded conformational polymorphism(SSCP)to screen for mutation in exon 17 of insulin receptor gene in 46 patients with hypertension and 49 normotensive controls,Three different SSCP patterns were detected in both patients and controls and the frequency of pattern I was 54.3%and 32.7%(x2=3.71,P=0.05)in patients and controls respectively;The frequency of pattern Ⅱwas 61.3%and 26.1%(x2=10.49,P=0.001)in controls and patients respectively;the frequency of pattern Ⅲ did not differ between controls and patients.Based on direct sequencing,the differences between pattern Ⅱand patternⅠwere explained by a mutation substituting at position 1040,GAG1040→GAA1040,which suggests that codon GAA1040 may be a genetic marker for susceptibility to essential hypertension in Chinese.