Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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Molecular Genetic Diagnosis of Inherited Metabolic Diseases

유전성 대사 질환의 분자 유전학적 진단

  • Ki, Chang-Seok (Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Lee, Su-Yon (Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Jong-Won (Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • 기창석 (성균관 대학교 의과대학, 삼성서울병원 진단검사의학과) ;
  • 이수연 (성균관 대학교 의과대학, 삼성서울병원 진단검사의학과) ;
  • 김종원 (성균관 대학교 의과대학, 삼성서울병원 진단검사의학과)
  • Published : 2005.07.02
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Abstract

Inherited metabolic diseases (IMD) comprise a large class of genetic diseases involving disorders of metabolism. The majorities are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. Because of the multiplicity of conditions, many different diagnostic tests are used for screening of IMD. Molecular genetic diagnosis is the detection of pathogenic mutations in DNA and/or RNA samples and is becoming a much more common practice in medicine today. The purpose of molecular genetic testing in IMD includes diagnostic testing, pre-symptomatic testing, carrier screening, prenatal diagnosis, preimplantation testing, and population screening. However, because of the complexity, difficulty in interpreting the result, and the ethical considerations, an understanding of technical, conceptual, and practical aspects of molecular genetic diagnosis is mandatory.

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