Qiu C, Zhu X, Ji T, Sun M, Liu L
Institute of Basic Medical Sciences, CAMS and PUMC, Beijing.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 1995 Apr;17(2):81-5.
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% (chi 2 = 3.71, P = 0.05) in patients and controls respectively; The frequency of pattern II was 61.3% and 26.1% (chi 2 = 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 II and pattern I were 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.
我们分析了单链构象多态性（SSCP），以筛查46例高血压患者和49例血压正常对照者胰岛素受体基因第17外显子的突变情况。在患者和对照者中均检测到三种不同的SSCP模式，模式I在患者和对照者中的频率分别为54.3%和32.7%（χ² = 3.71，P = 0.05）；模式II在对照者和患者中的频率分别为61.3%和26.1%（χ² = 10.49，P = 0.001）；模式III在对照者和患者之间无差异。基于直接测序，模式II与模式I之间的差异是由第1040位的突变GAG1040→GAA1040解释的，这表明密码子GAA1040可能是中国人原发性高血压易感性的一个遗传标记。
