Principles of Inheritance and Variation — BIOLOGY STD 12 Science — Question
Maharashtra BoardEnglish MediumSTD 12 ScienceBIOLOGYPrinciples of Inheritance and Variation5 Marks
Question
Mention any two autosomal genetic disorders with their symptoms.
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Answer
Two autosomal genetic disorders are as follows: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 $Hb ^{ A }$ and $Hb ^5$ allele. The homozygous individuals with genotype, $Hb ^5 Hb ^5$, show the symptoms of this disease while the heterozygous individuals with genotype, $Hb ^{ A } Hb ^5$, 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.
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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