Analysis of Inactivating Point Mutation of the Follicle Stimulating Hormone Receptor Gene in Korean Infertile Men.
- Author:
Hyoung Song LEE
1
;
Gyun Jee SONG
;
Kwangwoo CHEON
;
Yong Seog PARK
;
Jeong Wook KIM
;
Jong Hyun KIM
;
You Sik LEE
;
Ju Tae SEO
Author Information
1. Laboratory of Reproductive Biology & Infertility, Samsung Cheil Hospital & Women's Healthcare Center, Korea.
- Publication Type:Original Article
- Keywords:
FSH receptor;
Inactivating point mutation;
Male infertility
- MeSH:
Azoospermia;
Cell Count;
Digestion;
Exons;
Female;
Follicle Stimulating Hormone*;
Gametogenesis;
Humans;
Infertility;
Infertility, Male;
Male;
Oligospermia;
Point Mutation*;
Polymerase Chain Reaction;
Receptors, FSH*;
Spermatogenesis
- From:Korean Journal of Andrology
1999;17(2):107-110
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
PURPOSE: Follicle stimulating hormone (FSH) is essential for normal gametogenesis. In females FSH is required for ovarian development and follicle maturation whereas in males FSH determines Sertoli cell number and normal spermatogenesis quantitatively and qualitatively. Recently, Tapanainen et al. (1) reported that an anactivating point mutation (C566T) of the FSH receptor gene in males suppressed spermatogenesis but did not cause azoospermia or absolute infertility. To study the significance of the C566T inactivating point mutation in male infertility, we examine the FSH receptor gene in men with azoospermia or oligozoospermia. MATERIALS AND METHODS: Peripheral blood was collected from each patient who had elevated serum FSH. To amplify a suitable segment of the FSHR gene containing nuceotide 566, primer flanking the region was used. And to screen individuals for the C566T mutation, PCR was performed for exon 7 of the FSH receptor gene in 58 patients. RESULTS: The 78-bp fragment containing nucleotide 566 was present in all patient, the PCR product in cleaved into fragments 51-bp and 27-bp by Bsm I digestion. No inactivating point mutations of FSH receptor gene was identified in men with azoospermia or oligozoospermia. CONCLUSIONS: Inactivating point mutation (C566T) of the FSH receptor is not a common cause of male infertility. However we cannot exclude point mutations in other regions of the FSH receptor gene in some patient with azoospermia or oligozoospermia.
