Mention any two autosomal genetic disorders with their symptoms
Answers
Answer:
Cystic fibrosis and sickle cell anaemia
Symptoms:For cystic fibrosis
1. Cough can be chronic, with blood or with phlegm.
2. Repeated lung infections.
3. Inability to gain weight.
4. Bulky stools, fat in stools, diarrhoea or severe constipation.
Symptoms: For sickle cell anaemia
1.Sudden pain in the chest or in joints.
2. Blood in urine, inability to make concentrated or dilute urine.
3. Dactylitis (swelling and inflammation of hands and/or feet) and arthritis.
4. Yellow skin and eyes.
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.
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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