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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Topics

cystic fibrosis sickle cell anemia thalassemia inborn error of metabolism phenylketonuria mitochondrial disease Prader-Willi syndrome chromosomal disorder Huntington disease fragile-X syndrome 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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