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[Follicular stimulating hormone receptor gene C566T mutation in premature ovarian failure]
Xin-na Chen1, Gui-an Chen, Mei-zhi Li
1Reproductive Medicine Center, Peking University Third Hospital, Beijing 100083, China.
Objective:
To investigate the incidence of follicular stimulating hormone receptor (FSHR) gene C566T mutation in Chinese women with premature ovarian failure (POF) and to explore the etiologies of POF.
Methods:
This case-control study was carried out between 73 Chinese women with idiopathic POF (POF group) and 35 controls (control group), including 25 normal females with a regular menstrual history and 10 normal post-menopause women. DNA was extracted from the peripheral blood of patients and controls. The exon 7 of FSHR gene was amplified by PCR. PCR products were subsequently digested by the enzyme BsmI and then subjected to electrophoresis on agarose gels and stained with ethidium bromide to determine the C566T mutation. DNA samples of random sampling were further analysed by sequencing the PCR products to confirm the mutation.
Results:
BsmI digestion resulting in two fragments of 51 and 27 base pairs was noted for all 73 POF patients and 35 controls. PCR sequencing confirmed that the 566 allele of FSHR gene is C, demonstrating normal FSHR allele.
Conclusions:
No FSHR gene C566T mutation is present in POF patients and controls. FSHR C566T mutation may be rare in Chinese women with POF.
