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의약품정보/영양제 건강정보

[약사포스팅] 유전질환의 분류

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유전질환(Genetic disorder)의 3분류


 

1. 염색체 구조, 수 이상(Chromosomal disorder: Genomic or chromosomal mutation)

 

2. 단일 유전자 이상 (Single-gene disorder): Disorders related to mutant (single) genes of large effect

- uncommon: *Mendelian disorder - Storage disease, Inborn errors of metabolism

- "Single gene disorders with nonclassic patterns of inheritance

- triplet-repeat mutations, mitochondrial DNA mutation, genomic imprinting, gonadal mosaicism

 

3. 다인자 유전(Disease with multifactorial (polygenic) inheritance): Influenced by both genetic (multiple genes of small effects) and environmental factors : Hypertension, DM

 

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