Novel single-nucleotide polymorphisms of LHX8 gene in Korean women with premature ovarian insufficiency

摘要

LHX8 (LEVI homeobox 8) is a germ cell-specific transcription factor that is crucial for folliculogenesis in the ovary and represents a candidate gene for premature ovarian insufficiency. We analyzed whether mutations in the LHX8 gene in 96 Korean women with premature ovarian insufficiency. The sequence analysis identified four known SNPs included one synonymous and three intronic variants and discovered three novel single-nucleotide polymorphisms in intron 4 (c.114+99C>A), intron 4 (C.114+100OA) andintron 6 (c.390+77c