摘要
探讨胰岛素受体基因在高血压发病中的作用。方法采用聚合酶链式反应－单链构象多态性方法检测４６例高血压患者和３９例正常血压对照者的胰岛素受体基因第１７、１８外显子的多态性。结果检出外显子１７突变，突变在高血压组和对照组的频率分别为８．１２％和６．８８％（Ｐ＜０．０５），两组间有显著性差异（χ２＝４．９０８２）。突变经核苷酸序列分析为ＣＡＣ１０５８→ＣＡＴ１０５８纯合或杂合多态性突变。外显子１８未发现突变。结论提示编码第１０５８位氨基酸的ＣＡＣ可能是原发性高血压易感的基因标志。
Aim\ To study the role of insulin receptor gene mutations in the pathogenesis of hypertension.\ Methods\ The polymorphism of exon 17 and 18 of insulin gene were detected in 46 hypertension patients and 39 normal controls using PCR and single strand conformation polymorphism.\ Results\ The mutations in exon 17 were found. The mutation frequency of exon 17 were 8.12% and 6.88% in patients and controls, respectively(χ 2=4.9082, P <0.05). Based on direct sequence analysis of exon 17, homozygous and heterozygous nonsense mutations were found silent polymorphism at position 1058(CAC→CAT). The mutations in exon 18 were not found. Conclusion\ The result suggests that codon 1058(CAC) may be a genetic marker of susceptibility for hypertension in Chinese.
出处
《高血压杂志》
CSCD
1999年第1期33-35,共3页
Chinese Journal of Hypertension
基金
天津市自然科学基金
关键词
高血压
胰岛素抵抗
胰岛素
受体
基因突变
essential hypertension
\ insulin resistance
\ insulin receptor
\ gene mutation
\ single strand conformation polymorphism
