Question 16: Mention any two autosomal genetic disorders with their symptoms.
Answer:
Two autosomal genetic disorders are as follows.
1. Sickle cell Anaemia
It is an autosomal linked recessive disorder, which is caused by point mutation in the beta-globin chain of haemoglobin pigment of the blood. The disease is characterized by sickle shaped red blood cells, which are formed due to the mutant haemoglobin molecule. The disease is controlled by HbA and HbS allele. The homozygous individuals with genotype, HbS HbS, show the symptoms of this disease while the heterozygous individuals with genotype, HbA HbS, are not affected. However, they act as carriers of the disease.
Symptoms
Rapid heart rate, breathlessness, delayed growth and puberty, jaundice, weakness, fever, excessive thirst, chest pain, and decreased fertility are the major symptoms of sickle cell anaemia disease.
(b) Down’s syndrome
It is an autosomal disorder that is caused by the trisomy of chromosome 21.
Symptoms
The individual is short statured with round head, open mouth, protruding tongue, short neck, slanting eyes, and broad short hands. The individual also shows retarded mental and physical growth.
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