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As we know, disorders are of various types depending upon the causal factors. This article will thus cover the second type of disorder known as autosomal genetic disorders.
Autosomal genetic disorders
- A disorder caused by the abnormality of a gene located on the autosome (other than sex chromosome)
- Autosomal genetic disorders can be of two types: Autosomal Dominant and Autosomal Recessive
- Autosomal Dominant means the gene will express itself (expression of the disorder in humans) even when there is only one defective chromosome in the pair (since genes are always in pairs). Eg. Huntington disease, Familial Hypercholesterolaemia
- Autosomal Recessive means both chromosomes of the pair have to be defected for the expression of the disorder in humans. Eg. Sickle cell anemia, Cystic fibrosis, Beta thalassaemia
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