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Novel Single-Nucleotide Polymorphisms of SOHLH2 in Korean Patients with Premature Ovarian Failure KCI 등재
Jeong Ji-Hye, Choi Mi-Kyung, Won Hyung-Jae, Song Seung-Hoon, Kim You-Shin, Lyu Sang-Woo, Seok Hyun-Ha, Park Mi-Ree, Kim Nam-Keun, Yoon Tae-Ki, Shim Sung-Han, Choi Young-Sok
- 언어KOR
- URLhttps://db.koreascholar.com/Article/Detail/1549
Development & Reproduction
(발생과 생식)
Vol. 15 No. 4 (2011.12)
pp.309-313
pp.309-313
한국발생생물학회
(The Korea Society Of Developmental Biology)
초록
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.
저자
