human genetic disease

Table of Contents

Introduction
Classes of genetic disease
- Diseases caused by chromosomal aberrations
  - Numerical abnormalities
  - Structural abnormalities
  - Abnormalities of the sex chromosomes
- Diseases associated with single-gene Mendelian inheritance
  - Autosomal dominant inheritance
  - Autosomal recessive inheritance
  - Sex-linked inheritance
- Diseases associated with single-gene non-Mendelian inheritance
  - Triplet repeat expansions
  - Mitochondrial DNA mutations
  - Imprinted gene mutations
- Diseases caused by multifactorial inheritance
Genetics of cancer
Cognitive and behavioral genetics
Genetic damage from environmental agents
- Viruses
- Plants, fungi, and bacteria
- Industrial chemicals
- Combustion products
- Alcohol
- Ultraviolet radiation
- Ionizing radiation
- Molecular oxygen
Management of genetic disease
- Genetic counseling
  - Calculating risks of known carriers
  - Estimating probability: Bayes’s theorem
- Diagnosis
  - Prenatal diagnosis
  - Genetic testing
- Options for treatment
Ethical issues

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human genetic disease: Related Content

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Last Updated: Apr 26, 2025

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hemophilia A Leber’s disease lysosomal disorder familial disease Duchenne muscular dystrophy cystic fibrosis sickle cell anemia thalassemia inborn error of metabolism phenylketonuria nutritional disease disability cardiovascular disease mental disorder nervous system disease human behaviour digestive system disease therapeutics childhood disease and disorder respiratory disease

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