Clinical and Experimental Reproductive Medicine

The Korean Society for Reproductive Medicine (대한생식의학회)
권호 표지

The Analysis of SHP (Small Heterodimer Partner) Gene Mutation in Infertile Patients with Polycystic Ovary Syndrome (PCOS) in Korea

한국인 다낭성 난포증후군 환자에서 SHP 유전자 변이 분석

  • Lee, Su-Man (Laboratory of Genetics, Infertility Medical Center, CHA General Hospital College of Medicine, Pochon CHA University) ;
  • Choi, Hueng-Sik (Hormone Research Center, Chonnam National University) ;
  • Lee, Sook-Hwan (Laboratory of Genetics, Infertility Medical Center, CHA General Hospital College of Medicine, Pochon CHA University) ;
  • Han, Jung-Hee (Laboratory of Genetics, Infertility Medical Center, CHA General Hospital College of Medicine, Pochon CHA University) ;
  • Nam, Bo-Hyun (Laboratory of Genetics, Infertility Medical Center, CHA General Hospital College of Medicine, Pochon CHA University) ;
  • Kwak, In-Pyung (Laboratory of Genetics, Infertility Medical Center, CHA General Hospital College of Medicine, Pochon CHA University) ;
  • Nam, Yoon-Sung (Laboratory of Genetics, Infertility Medical Center, CHA General Hospital College of Medicine, Pochon CHA University) ;
  • Kim, Nam-Keun (Infertility Medical Center, Pundang CHA General Hospital) ;
  • Lee, Kyo-Won (Kangbuk Samsung Hospital, SungKyunKwan University School of Medicine) ;
  • Jeon, Hye-Sun (Infertility Medical Center, Pundang CHA General Hospital)
  • 이수만 (차병원 여성의학연구소 유전학연구실 포천중문 의과대학교) ;
  • 최흥식 (전남대학교 호르몬연구센터) ;
  • 이숙환 (차병원 여성의학연구소 유전학연구실 포천중문 의과대학교) ;
  • 한정희 (차병원 여성의학연구소 유전학연구실 포천중문 의과대학교) ;
  • 남보현 (차병원 여성의학연구소 유전학연구실 포천중문 의과대학교) ;
  • 곽인평 (차병원 여성의학연구소 유전학연구실 포천중문 의과대학교) ;
  • 남윤성 (차병원 여성의학연구소 유전학연구실 포천중문 의과대학교) ;
  • 김남근 (분당차병원 불임센타) ;
  • 이교원 (성균관의대 강북삼성병원) ;
  • 전혜선 (분당차병원 불임센타)
  • Published : 2001.06.30
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Abstract

Objective: We inversigated Small Heterodimer Partner (SHP) gene mutation in Korean Polycystic Ovarian Syndrome (PCOS) patients. SHP protein regulates the activity of nuclear receptors which regulate the cellular development and differentiation. Recently, the mutation of SHP gene was found in the obesity and diabetes patients in Japanese group, and suggested that its mutation may involved in pathogenic mechanism of PCOS. Methods: This study was performed in 20 PCOS patients and 20 normal women. The DNAs were extracted from the peripheral bloods, and amplified at each exon (1 and 2) of SHP gene by PCR method. Subsequently, each PCR product was digested with the restriction enzyme indicated below for studying restriction fragment length polymorphism (RFLP). After enzyme digestion, the results of RFLP were compared PCOS patients with control women to find any sequence variation. Results: We examined 9 regions of exon 1 with Msp I, Pvu II, Dde I and 3 regions of exon 2 with Pst I, Dde I. There is no heterozygous or homozygous mutation in patients and control women at these restriction sites. Conclusion: The genetic analysis at our restriction sites in the SHP gene did not show any genetic variation in Korean PCOS patients. Our PCR-RFLP analysis was not covered the entire SHP gene (68 bp/1,006 bp), we need to further analysis of the entire SHP gene.

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