Autosomal recessive disease: Difference between revisions
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An autosomal recessive [[Disease|disease]] is a genetically inherited disease that requires both genes to be | An autosomal recessive [[Disease|disease]] is a genetically inherited disease that requires both genes to be defective in order for it to be expressed in the [[Phenotype|phenotype]]. Therefore to inherit this disease both of your parents must have at least one mutant [[Gene|gene]] in their [[Genotype|genotype]]. It is possible that both parents show none of the disease symptoms as they are both carriers for the disease, in this case, the likelihood of their child inheriting the disease is one in four as they must inherit the mutant [[Gene|gene]] from both. The term [[Autosomal|autosomal]] also shows that the disease is not [[sex linked|sex linked]] i.e. it is not on the [[X chromosome|X]] or [[Y chromosome|Y chromosome]], therefore neither male or female offspring are any more likely to inherit the disease. The condition does not appear in every generation compare to Autosomal dominant diseases and it is called as horizontal pedigree pattern | ||
=== Associated diseases | === Associated diseases === | ||
There are many autosomal recessive diseases such as; | There are many autosomal recessive diseases such as; | ||
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*[[Cystic fibrosis|Cystic fibrosis]]<ref>http://www.nhs.uk/Conditions/cystic-fibrosis/Pages/Introduction.aspx</ref> | *[[Cystic fibrosis|Cystic fibrosis]]<ref>http://www.nhs.uk/Conditions/cystic-fibrosis/Pages/Introduction.aspx</ref> | ||
*[[Sickle cell anaemia|Sickle cell anaemia]] | *[[Sickle cell anaemia|Sickle cell anaemia]] | ||
*[ | *[[Gaucher's disease|Gaucher's disease]]<ref>http://omim.org/entry/230800</ref> | ||
*[ | *[[Gillespie syndrome|Gillespie syndrome]]<ref>http://omim.org/entry/206700</ref> | ||
=== References | === References === | ||
<references / | <references /> | ||
Latest revision as of 22:15, 4 December 2017
An autosomal recessive disease is a genetically inherited disease that requires both genes to be defective in order for it to be expressed in the phenotype. Therefore to inherit this disease both of your parents must have at least one mutant gene in their genotype. It is possible that both parents show none of the disease symptoms as they are both carriers for the disease, in this case, the likelihood of their child inheriting the disease is one in four as they must inherit the mutant gene from both. The term autosomal also shows that the disease is not sex linked i.e. it is not on the X or Y chromosome, therefore neither male or female offspring are any more likely to inherit the disease. The condition does not appear in every generation compare to Autosomal dominant diseases and it is called as horizontal pedigree pattern
Associated diseases
There are many autosomal recessive diseases such as;