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.
(2) 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,
broad short hands. The individual also shows retarded mental and physical growth.
Which of the following statements are correct about Klinefelter’s Syndrome?
A. This disorder was first described by Langdon Down (1866).
B. Such an individual has overall masculine development. However, the feminine development is also expressed.
C. The affected individual is short statured.
D. Physical, psychomotor and metal development is retarded. E. Such individuals are sterile.
Choose the correct answer from the options given below:
Why was Drosophila melanogaster used for studies in Genetics ?
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What is the Planning Process?
If two genes were present on the same chromosome, the chances of getting a parental combination were much higher in the next generation in comparison to the non-parental combination. This physical association of genes was termed ‘linkage’. The description of the non-parental gene combinations in a dihybrid cross is termed ‘genetic recombination'. After the discovery of linked genes, the frequency of linked genes also influenced the appearance of traits in the next generation.
Read More: Chromosomal Theory of Inheritance