Autosomal Recessive

 AUTOSOMAL RECESSIVE

 

An autosomal recessive disease is only expressed when the affected individual carries two copies of the gene (described as being homozygous for the gene) (see Box 7.1). Individuals who are heterozygous for the gene express a normal phenotype. During pregnancy, unless a woman has been screened for a particular disease based on her risk factors (e.g., sickle cell disease or cystic fibrosis), carriers of a recessive gene will not know they are carriers until they have affected off-spring. Other examples of autosomal recessive disorders include Tay-Sachs disease and phenylketonuria.

  

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