Question

Mention any two autosomal genetic disorders with their symptoms​

Answer 1

Answer:

Explanation:

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 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.

2. Huntingtons disease or Huntingtons chorea

It is a dominant autosomal inherited disorder in which muscle and mental deterioration occurs. There is gradual loss of motor control resulting in uncontrollable shaking and dance like movements (chorea).

Life expectancy averages 15 years from the onset of symptoms.

Symptoms

The brain shrinks between 20-30% in size followed by slurring of speech, loss of memory and hallucinations.

Answer 2

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Answer:

Two autosomal genetic disorder with their symptoms are:

Sickle cell anemia

Symptoms - Rapid heart rate, breathlessness, jaundice, weakness, fever etc.

Down’s syndrome

Symptoms - Protruding tongue, short neck, slanting eyes etc.

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