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Autosomal Recessive Disorders

Autosomal Recessive disorders are given below:

Autosomal recessive disorders result only e when both alleles at given gene locus are mutant.

Such disorders are characterized by the following features:

1. That rate does not usually affects the parents but siblings may show disease.

2. Siblings have one chance in four of being affected (i.e. the recurrence risk is 25% of or each birth).

3. If the mutant gene occurs with a low frequency in the population, there is a strong likelihood that the probanf is the product of a consaguineous marriage.

The Following features generally apply to most autosomal Recessive disorders:

1. Expression is more uniform

2. Complete penetrance is common

3. Onset is frequently early in the life.

4. New mutation manifests after several generations pain.

Autosomal Recessive disorders include almost all inborn errors of metabolism.

Single gene disorders are:

1. Autosomal Dominant disorders

2. Autosomal Recessive disorders

3. X-linked disorders