[The study of mutation in exon 17 of insulin receptor gene in essential hypertensive pedigrees].
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.
Pang
L
L
PUMC Hospital, PUMC, Beijing.
Sun
M
M
Guo
D
D
Guan
B
B
Ji
B
B
D000293:Adolescent; D000804:Angiotensin II / Q000097:blood; D001786:Blood Glucose / Q000378:metabolism; D005091:Exons; D005260:Female; D006801:Humans; D006973:Hypertension / Q000097:blood / Q000235:genetics*; D007328:Insulin / Q000097:blood; D007333:Insulin Resistance; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D011972:Receptor, Insulin / Q000235:genetics*
D001786:Blood Glucose; D007328:Insulin; D000804:Angiotensin II; D011972:Receptor, Insulin