Absence of Mutations in the Coding Regions of Follicle-Stimulating Hormone Receptor Gene in Singapore Chinese Women with Premature Ovarian Failure and Polycystic Ovary Syndrome

 

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Normal gonadal function is critically dependent on the integrity of pituitary-gonadal axis, where follicle-stimulating hormone (FSH) plays a key role. In the female, FSH is required for follicular growth, estrogen production and oocyte maturation. Its function is mediated by its specific receptor (FSHR), and defective FSHR has been shown to affect folliculogenesis and ovarian function. In this study, we screened the entire coding region of FSHR gene for pathogenic mutations in women with premature ovarian failure (POF) (n = 16) and polycystic ovary syndrome (PCOS) (n = 124) and found no mutations in these patients. Two known polymorphisms, Thr307Ala and Ser680Asn showed similar distributions of the allelic variations and protein isoforms in PCOS and normal control subjects (n = 236). It appears from this study that mutations in the coding regions of FSHR gene are not a causative factor of the above clinical manifestations in Chinese Singapore women.

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Prof. Ashim C. Roy

Department of Obstetrics and Gynaecology
National University Hospital
National University of Singapore

Lower Kent Ridge Road
Singapore 119074


Phone: Phone:+ 65-7724273

Fax: Fax:+ 65-7794753

Email: E-mail:obgroyac@nus.edu.sg