In: Biology
Mention any two autosomal genetic disorders with their symptoms.
Two autosomal genetic issues are as follows.
1. Sickle cellular Anaemia
it is an autosomal linked recessive disorder, that's caused by point mutation in the beta-globin chain of haemoglobin pigment of the blood. The sickness is characterized by sickle formed red blood cells, which might be formed because of the mutant haemoglobin molecule. The sickness is managed by using HbA and HbS allele. The homozygous people with genotype, HbS HbS, display the signs of this disorder at the same time as the heterozygous individuals with genotype, HbA HbS, aren't affected. however, they act as carriers of the disorder.
symptoms
rapid coronary heart fee, breathlessness, behind schedule growth and puberty, jaundice, weak point, fever, immoderate thirst, chest ache, and reduced fertility are the essential symptoms of sickle cell anaemia sickness.
(b) Down’s syndrome
it's far an autosomal ailment this is as a result of the trisomy of chromosome 21.
signs
The person is short statured with spherical head, open mouth, sticking out tongue, quick neck, slanting eyes, and extensive short arms. The person additionally shows retarded intellectual and bodily growth