Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Molecular Genetic Diagnosis of Genetic Endocrine Diseases

유전성 내분비 질환의 분자유전학적 진단

  • Choi, Jin-Ho (Division of Endocrinology and Metabolism, Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Kim, Gu-Hwan (Medical Genetics Clinic and Laboratory, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Yoo, Han-Wook (Division of Endocrinology and Metabolism, Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
  • 최진호 (울산대학교 의과대학 소아과학교실, 서울아산병원 소아청소년과) ;
  • 김구환 (울산대학교 의과대학, 서울아산병원 의학유전학클리닉) ;
  • 유한욱 (울산대학교 의과대학 소아과학교실, 서울아산병원 소아청소년과)
  • Received : 2010.05.26
  • Accepted : 2010.06.18
  • Published : 2010.03.01
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Abstract

Many endocrine disorders have a genetic component. The genetic component is the major etiologic factor in monogenic disorders, while multiple genes in conjunction with environmental and lifestyle factors contribute to the pathogenesis in complex disorders. The development of the molecular basis of inherited endocrine diseases has undergone a dramatic evolution during the last two decades. The application of molecular technology allowed us to increase our understanding of endocrine diseases, and to impact on the practice of pediatric endocrinology related to diagnosis and genetic counseling. Identification of the mutation in the particular disease by genetic testing leads to precise diagnosis in the equivocal cases and prenatal diagnosis. However, clinicians should be cautious about determining therapeutic decisions solely on the basis of molecular studies, especially in the area of prenatal diagnosis and termination of pregnancy. This review describes an introduction to molecular basis of various inherited endocrine diseases and diagnosis by genetic testing.

많은 내분비 질환이 유전적 요소를 갖고 있다. 단일 유전자 질환에서는 유전적 요인이 주요 원인이나 다인자성 질환에서는 환경과 생활습관 등이 함께 병인으로 작용한다. 유전성 내분비 질환의 분자유전학적 병인에 대한 이해에 대하여 최근 많은 발전이 있어 왔으며 분자유전학적 기술의 응용으로 질환에 대한 이해와 이를 이용한 진단 및 유전 상담에 도움이 되고 있다. 유전학적 검사로 특정 질환의 돌연변이를 증명하는 것은 진단이 모호한 경우에서 정확한 진단과 산전 진단, 보인자 검사에 적용될 수 있다. 그러나 유전자 검사만으로 임신 중절과 관련된 산전 진단에 이용하는 데에는 신중을 기해야 한다.

Keywords

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