Pang L, Sun M, Guo D, Guan B, Ji B
PUMC Hospital, PUMC, Beijing.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 1997 Apr;19(2):83-8.
Using the molecular scanning technique of single-stranded conformational polymorphism, we examined the exon 17 of the insulin receptor (INSR) gene in 44 subjects of 6 essential hypertensive pedigrees and 2 normotensive pedigrees. In addition the serum levels of glucose and insulin during an oral glucose tolerance test (OGTT); blood lipid, and plasma angiotension II and angiotensinogen were done on these pedigrees. Upon direct sequence analysis, 5 individuals were found a single nucleotide substitution at the codon 1058 (CAC-->CAT), which didn't change the amino acid sequence. Among the five individuals 4 of them were from the families with history of hypertension, only one was from normotensive pedigree. Compared with those without the mutation, the individuals with the mutation had a lower ratio of fasting blood glucose to fasting serum insulin level (P < 0.01) and an elevated plasma Ang II concentration. (There was no significant difference, P > 0.05, probably due to the mutant cases which we studied were small). Thus, we conjectured that the mutation in codon 1,058 of the INSR gene might be related with the insulin resistance in hypertensive patients and subjects with the positive hypertensive history.
我们运用单链构象多态性分子扫描技术，对6个原发性高血压家系的44名受试者以及2个血压正常家系的受试者的胰岛素受体（INSR）基因第17外显子进行了检测。此外，还对这些家系进行了口服葡萄糖耐量试验（OGTT）期间的血糖和胰岛素血清水平、血脂、血浆血管紧张素II和血管紧张素原的检测。经直接序列分析，发现5名个体在密码子1058处存在单核苷酸替换（CAC→CAT），但氨基酸序列未发生改变。在这5名个体中，有4名来自有高血压病史的家族，只有1名来自血压正常的家系。与未发生突变的个体相比，发生突变的个体空腹血糖与空腹血清胰岛素水平的比值较低（P < 0.01），血浆血管紧张素II浓度升高。（差异无统计学意义，P > 0.05，可能是因为我们研究的突变病例较少）。因此，我们推测INSR基因密码子1058处的突变可能与高血压患者及有高血压阳性家族史的受试者的胰岛素抵抗有关。
