Molecular variants of the FSH receptor exon 10 (Thr307Ala; A919G) in premature ovarian failure (POF) women by PCR-SSCP. |
Nam Keun Kim, Sook Hwan Lee, Yoon Sung Nam, Tae Jong Sohn, Sang Hee Park, Chan Park, Jung Jae Ko, Kwang Yul Cha |
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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. |
Key Words:
Premature ovarian failure (POF), FSH receptor gene, Missense mutation, PCR-SSCP |
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