Follicle stimulating hormone receptor gene mutation in Korean women with premature ovarian failure and normal karyotype.
- Author:
Young Min CHOI
;
Seok Hyun KIM
;
Jeong Koo KIM
;
Shin Yong MOON
;
Jin Yong LEE
;
Gue Wha LEE
- Publication Type:Original Article
- Keywords:
Premature ovarian failure;
FSH receptor gene;
C566T mutation;
FSH;
C566T
- MeSH:
Alleles;
Base Pairing;
Female;
Follicle Stimulating Hormone*;
Humans;
Karyotype*;
Point Mutation;
Polymerase Chain Reaction;
Primary Ovarian Insufficiency*;
Receptors, FSH*;
Sequence Analysis, DNA
- From:Korean Journal of Obstetrics and Gynecology
2000;43(5):836-841
- CountryRepublic of Korea
- Language:Korean
-
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.
