Korean J Obstet Gynecol.  2000 May;43(5):836-841.

Follicle stimulating hormone receptor gene mutation in Korean women with premature ovarian failure and normal karyotype

• Choi YM
• Kim SH
• Kim JK
• Moon SY
• Lee JY
• Lee GW

Abstract

OBJECTIVE
To determine whether the follicle stimulating hormone(FSH) receptor gene mutation (C566T point mutation) is present in Korean women with premature ovarian failure and normal karyotype.
METHODS
Genomic deoxyribonucleic acid(DNA) obtained from 40 patients with chromosomally competent premature ovarian failure and from 30 normal fertile women(control group) was amplified by polymerase chain reaction(PCR). PCR products were digested by the enzyme BsmI and polyacrylamide gel(PAG) elctrophoretic patterns of these enzyme-digested products were analyzed. The direct sequencing of PCR products was also performed. RESULTS: All patients with premature ovarian failure and 30 normal control women demonstrated homozygous, normal alleles with 51- and 27- base pairs fragments in PAG elctrophoresis. The absence of C566T point mutation in both group was confirmed by direct DNA sequencing.
CONCLUSIONS
A C566T mutation in FSH receptor gene is rare in Korean women with premature ovarian failure and normal karyotype.

Keyword

Premature ovarian failure; FSH receptor gene; C566T mutation; FSH; C566T

MeSH Terms

Alleles
Base Pairing
Female
Follicle Stimulating Hormone*
Humans
Karyotype*
Point Mutation
Polymerase Chain Reaction
Primary Ovarian Insufficiency*
Receptors, FSH*
Sequence Analysis, DNA
Follicle Stimulating Hormone
Receptors, FSH