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Novel Single-Nucleotide Polymorphisms of SOHLH2 in Korean Patients with Premature Ovarian Failure  

Jeong, Ji-Hye (Dept. of Biomedical Science, CHA University)
Choi, Mi-Kyung (Dept. of Biomedical Science, CHA University)
Won, Hyung-Jae (Fertility Center of CHA Gangnam Medical Center)
Song, Seung-Hoon (Fertility Center of CHA Gangnam Medical Center)
Kim, You-Shin (Fertility Center of CHA Gangnam Medical Center)
Lyu, Sang-Woo (Fertility Center of CHA Gangnam Medical Center)
Seok, Hyun-Ha (Fertility Center of CHA Gangnam Medical Center)
Park, Mi-Ree (Dept. of Biomedical Science, CHA University)
Kim, Nam-Keun (Dept. of Biomedical Science, CHA University)
Yoon, Tae-Ki (Fertility Center of CHA Gangnam Medical Center)
Shim, Sung-Han (Dept. of Biomedical Science, CHA University)
Choi, Young-Sok (Dept. of Biomedical Science, CHA University)
Publication Information
Development and Reproduction / v.15, no.4, 2011 , pp. 309-313 More about this Journal
Abstract
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.
Keywords
Premature ovarian failure; SOHLH2; Infertility;
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