Question

Mention any two autosomal genetic disorders with their symptoms.

Answer 1

1. Cystic fibrosis is an autosomal-recessive disorder that affects newborns, children, and young adults. A recessive autosomal allele on chromosome 7 causes it. Caucasian Northern Europeans and White North Americans commonly experience it. The disease’s name comes from the fibrous cysts that form in the pancreas. In 70% of cases, the cause is a deletion of three DNA bases. This deletion creates a faulty glycoprotein. The faulty glycoprotein causes thick mucus to develop in the skin, lungs, pancreas, liver, and other secretory organs. The accumulation of thick mucus in the lungs obstructs the airways. Because of this, the condition was also known as mucoviscoides. Mucus deposits in the pancreas prevent the release of pancreatic juice. The waste does not properly digest food with high-fat content. The liver may develop cirrhosis, resulting in diminished bile production. The male vasa deferentia may undergo atrophy.
2. Huntington’s illness, often known as Huntington’s chorea, is a dominantly autosomal inherited ailment that causes muscle and mental deterioration. A gradual loss of motor control occurs, resulting in uncontrollable shaking and dance-like motions (chorea). The brain shrinks by 20–30%, resulting in slurred speech, memory loss, and hallucinations. The average life expectancy after the onset of symptoms is 15 years. This condition develops at the ages of 25 to 55. On chromosome 4, the dominant autosomal defective gene is found. This defective gene contains 42-100 CAG repeats rather than 10-34 repeats in the normal gene. This condition occurs in one in every 10,000 to 20,000 people.