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KMID : 0894520110150040309
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Development & Reproduction
2011 Volume.15 No. 4 p.309 ~ p.313
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Novel Single-Nucleotide Polymorphisms of SOHLH2 in Korean Patients with Premature Ovarian Failure
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Jeong Ji-hye
Choi Mi-kyung
Park Mi-ree
Kim Nam-Keun
Shim Sung-Han
Choi Young-Sok
Won Hyung-Jae
Song Seung-Hoon
Kim You-Shin
Lyu Sang-Woo
Seok Hyun-Ha
Yoon Tae-Ki
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Abstract
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SOHLH2 is a novel germ cell-specific transcription factor that is crucial for folliculogenesis in the ovary and spermatogenesis in the testis. SOHLH2 represents a candidate gene for infertility with premature ovarian failure. We analyzed whether mutations in the SOHLH2 gene in 98 Korean women with premature ovarian failure. The sequence analysis identified six novel SNPs (c.431-41G>C, c.656A>T, c.1000+27C>T, c.1000+33G>T, c1258-106G>A, and c.2094+ 11T>C) from Korean patients with premature ovarian failure. The c.656A>T found in exon 7 results in change of an amino acid, tyrosine to phenylalanine. Functional mutations in SOHLH2 gene are rare in Korean women with premature ovarian failure.
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KEYWORD
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Premature ovarian failure, SOHLH2, Infertility
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