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KMID : 1007320080140020149
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Journal of the Korean Society of Menopause
2008 Volume.14 No. 2 p.149 ~ p.159
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Mutation Analysis of Bone Morphogenetic Protein-15 Gene in Premature Ovarian Failure
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Sohn In-Sook
Lee Ji-Young
Kwon Han-Sung
Lee Sun-Joo
Kim Soo-Nyung
Lee Kyeong-Ryong
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Abstract
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Objectives: The present study was performed to analyze the mutation of BMP-15 gene in Korean patients with POF, and to investigate whether the mutation of this gene is a likely cause of POF.
Methods: Eight-six women with POF were studied and thirty-six normal women were enrolled as controls. Mutation screening of this gene was performed using denaturing HPLC and was confirmed using automatic sequencing.
Results: Five different mutations of BMP-15 gene were identified in Korean women with POF; c.-9G＞C mutation in 2 patients, p.His200Tyr mutation in 2 patients and one normal control, p.Ile243Ser mutation in one patient, c.783_784insCTT mutation and c.852C＞T silent mutations in 9 patients and 3 normal controls. c.-9G＞C mutation and p.Ile243Ser mutations were identified only in POF patients, which are likely causes of POF. Frequencies of c.-9G＞C and p.Ile243Ser mutations were 2.3% and 1.2%, respectively. c.783_784insCTT and c.852C＞T silent mutations may be common polymorphisms in Korean women. All mutations except c.852C＞T silent mutation was a new mutation found in the present study.
Conclusion: Premature ovarian failure was resulted by mutations of BMP-15 gene, but mutations of BMP-15 gene are not likely main causes of POF because of low frequency of the mutations.
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KEYWORD
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dHPLC, Premature ovarian failure, BMP-15 gene
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