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प्रश्न
Give an example of a human disorder that is caused due to a single gene mutation.
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उत्तर
Sickle-cell anaemia is a human genetic disorder caused by a single gene mutation. In sickle-cell anaemia, glutamic acid (Glu) at the 6th position of beta globin chain (of haemoglobin molecule) is replaced by valine (Val).
संबंधित प्रश्न
Given below is the representation of amino acid composition not the relevant translated portion of β-chain of haemoglobin, related to the shape of human red blood cells
(a) Is this representation indicating a normal human or a sufferer from certain related genetic disease? Give reason in support of your answer.
(b) What difference would be noticed in the phenotype of the normal and the sufferer related to this gene?
(c) Who are likely to suffer more from the defect related to the gene represented the males, the females or both males and females equally? And why?
A couple with normal vision bear a colour blind child. Work out a cross to show how it is possible and mention the sex of the affected child.
Mention any two autosomal genetic disorders with their symptoms.
Attempt any TWO of the following:
‘The gene for sickle cell anaemia in homozygous condition is lethal and produces sickle cell trait in heterozygous carrier’. Explain.
A male rabbit of genotype 'AABBDDEE' is crossed with a female rabbit of genotype 'aabbddee' to produce F1 hybrid offspring. How many genetically different gametes can be produced by this F1 hybrid?
Read the following statements and select the correct option.
i. Genetic disorders are broadly categorised as, Mendelian disorders and chromosomal disorders.
ii. Mendelian disorders are caused due to absence or excess of one or more chromosomes or their abnormal arrangement.
iii. Chromosomal disorders are mainly caused due to alteration or mutation in the gene.
The most striking example of point mutation is found in a disease called ______.
Why is the frequency of red-green colour blindness is many times higher in males than that in females?
Which of the folowing is a correct match?
Lipoprotein lipase deficiency (LPLD)is a genetic disorder in which a person has a defective gene for lipase. This leads to high triglycerides, stomach pain, and fat deposits under the skin. It may eventually affect the liver, pancreas and may also cause diabetes. The disorder occurs if a child acquires defective genes from both parents (autosomal recessive). ERT (enzyme replacement treatment) is one of the treatments offered to patients with LPLD.
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- What procedure is followed in ERT?
- What could be one possible drawback of ERT?
- How can LPLD be treated using Biotechnology? Elaborate.
