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KMID : 0388420040140010149
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Konkuk Journal of Medical Sciences
2004 Volume.14 No. 1 p.149 ~ p.160
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Mutation analysis of inhibin gene in Korean women with premature ovarian failure
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Kim Young-Jin
Lee Ji-Young
Sohn In-Sook
Kim Soo-Nyung
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Abstract
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The clinical models for studying ovary-determining genes may be premature ovarian failure(POF). POF is a condition causing amenorrhea, hypoestrogenism, and elevated gonadotropins in women under 40 years old. The prevalence of POF among reproductive women is 1%. POF is a highly heterogenous condition, but its etiology remains unknown in approximately two-thirds of cases. Many causes of POF were reported, including Turner syndrome, genetic disease, iatrogenic agents such as chemotherapy or radiotherapy, infection and autoimmune disease. FSH receptor, LH receptor, inhibin, GDF-9(growth differentiation factor), BMP-15(bone morphogenetic protein), DIAPH2(diaphanous gene) and XPNPEP2(X-prolyl aminopeptidase) genes were proposed as a possible candidate gene, but only mutations of FSH receptor, LH receptor, inhibin genes were reported in women with POF. The present study was performed to investigate whether the mutation of inhibin gene is observed in Korean patient with premature ovarian failure and whether mutation of these genes is a likely cause of POF.
Eighty-six women with premature ovarian failure were studied and thirty-six normal women were enrolled as control. Mutation screening of these genes were established by denaturing HPLC and were confirmed by automatic sequencing. No mutation of inhibin gene was identified in Korean women with POF.
In conclusion, premature ovarian failure was not likely caused by mutations of inhibin gene.
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KEYWORD
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Premature ovarian failure, inhibin gene, dHPLC
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