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Ananya Shree

Class 12th
Biology
2 years ago

Mention any two autosomal genetic disorders with their symptoms.

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Muskan Anand

2 years ago

Phenylketonuria: It is an inborn error of metabolism is also inherited as the autosomal recessive trait. The affected individual lacks an enzyme that converts the amino acid phenylalanine into tyrosine. As a result, this phenylalanine is accumulated and converted into phenyl pyruvic acid and other derivatives. Accumulation of these in brain results in mental retardation. Sickle cell anaemia: This is an autosome linked recessive trait that can be transmitted from parents to the offspring when both the partners are a carrier for the gene of heterozygous. The RBCs of the affected individual is sickle-shaped, hence the name, and its efficiency to pick oxygen due to the less amount of haemoglobin present causes anaemia.

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