title: [Detection of mutation in insulin receptor gene in patients with essential hypertension].
abstract: 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.
authors.affiliation: Institute of Basic Medical Sciences, CAMS and PUMC, Beijing.
authors.forename: C
authors.initials: C
authors.lastname: Qiu
authors.forename: X
authors.initials: X
authors.lastname: Zhu
authors.forename: T
authors.initials: T
authors.lastname: Ji
authors.forename: M
authors.initials: M
authors.lastname: Sun
authors.forename: L
authors.initials: L
authors.lastname: Liu
mesh_terms: D000328:Adult; D001483:Base Sequence; D004198:Disease Susceptibility; D005091:Exons; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D007333:Insulin Resistance / Q000235:genetics; D008875:Middle Aged; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011972:Receptor, Insulin / Q000235:genetics*
chemical_list: D011972:Receptor, Insulin