Autosomal recessive disease

An autosomal recessive disease is a genetically inherited disease that requires both genes to be defected 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 do 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;

• Cystic fibrosis
• Sickle cell anaemia
• Gaucher's disease
• Gillespie syndrome