Mention any two autosomal genetic disorders with their symptoms.
Mention any two autosomal genetic disorders with their symptoms.
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.
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.
