Korean J Obstet Gynecol.  2000 Jul;43(7):1144-1146.

Molecular variants of the FSH receptor exon 10 (Thr307Ala; A919G) in premature ovarian failure (POF) women by PCR-SSCP

• Kim NK
• Lee SH
• Nam YS
• Sohn TJ
• Park SH
• Park C
• Ko JJ
• Cha KY

Abstract

OBJECTIVE
This study was performed to determine whether the FSH receptor mutation is present in infertile Korean patients with 46,XX premature ovarian failure (POF) women.
METHODS
The variant of FSH receptor exon 10 in thirteen 46, XX idiopathic POF and 4 healthy fertile (control) women were studied. Missense mutation in Exon 10 was detected in POF patients and healthy fertile women by polymerase chain reaction-single stranded conformation polymorphism (PCR-SSCP).
RESULTS
The variant types of FSH receptor exon 10 (Thr307Ala; A919G) were found in healthy fertile (control) and POF women.
CONCLUSIONS
This mutation may not be specific in POF patients and further study is needed in fertile (control) and POF women.

Keyword

Premature ovarian failure (POF); FSH receptor gene; Missense mutation; PCR-SSCP

MeSH Terms

Exons*
Female
Humans
Mutation, Missense
Primary Ovarian Insufficiency*
Receptors, FSH*
Receptors, FSH