한국인의 난포자극호르몬수용체 유전자변이에 대한 분석

Analysis of Follicle Stimulating Hormone Receptor Gene Mutation in Korean

  • 남윤성 (포천중문의과대학 산부인과학교실) ;
  • 김남근 (포천중문의과대학 유전학교실) ;
  • 최명진 (포천중문의과대학 유전학교실) ;
  • 박상희 (포천중문의과대학 유전학교실) ;
  • 정기화 (공주대학교 생물학과) ;
  • 이숙환 (포천중문의과대학 산부인과학교실) ;
  • 윤태기 (포천중문의과대학 산부인과학교실) ;
  • 차광열 (포천중문의과대학 산부인과학교실)
  • Nam, Y.S. (Department of Obstetrics and Gynecology, College of Medicine, Pocheon CHA University) ;
  • Kim, N.K. (Department of Genetics, College of Medicine, Pocheon CHA University) ;
  • Choi, M.J. (Department of Genetics, College of Medicine, Pocheon CHA University) ;
  • Park, S.H. (Department of Genetics, College of Medicine, Pocheon CHA University) ;
  • Chung, K.W. (Department of Biology, Kongju National University) ;
  • Lee, S.H. (Department of Obstetrics and Gynecology, College of Medicine, Pocheon CHA University) ;
  • Yoon, T.K. (Department of Obstetrics and Gynecology, College of Medicine, Pocheon CHA University) ;
  • Cha, K.Y. (Department of Obstetrics and Gynecology, College of Medicine, Pocheon CHA University)
  • 발행 : 1998.09.30

초록

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 556C${\rightarrow}$T 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