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대한생식의학회지 제25권 제3호 2010년
한국인의 난포자극호르몬수용체 유전자변이에 대한 분석
포천중문의과대학 산부인과학교실, 유전학교실, 공주대학교 생물학과
남윤성, 김남근, 최명진, 박상희, 정기화, 이숙환, 윤태기, 차광열,
Analysis of Follicle Stimulating Hormone Receptor Gene Mutation in Korean
Nam ys, Kim nk, Choi mj, Park sh, Chung kw, Lee sh, Yoon tk, Cha ky
Premature ovarian failure is a condition causing amenorrhea, hypoestrogenism, and elevated gonadotropins in women younger than 40 years. Many causes of premature ovarian failure were reported, including genetic abnormalities, enzymatic defects, defects in gonadotropin secretion or action, autoimmune disorders, physical and idiopathic causes. Recently, Finnish group reported a point mutation in the follicle stimulating hormone(FSH) receptor gene in premature ovarian failure patients. But it was reported that the group from United States could not find any mutation in FSH receptor gene. So we analysed C566T point mutation of FSH receptor gene using restriction fragment length polymorphism (RFLP) and compared the result between premature ovarian failure patient with idiopathic and known causes. But we did not find 556CT mutation in the FSH receptor gene in both groups. These findings suggest that the missense mutation in the human FSH receptor gene reported in Finnish women with premature ovarian failure is uncommon in Korean women with premature ovarian failure.
키워드 : Premature ovarian failure, FSH receptor gene mutation
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