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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?
Why is pedigree analysis done in the study of human genetics? State the conclusions that can be drawn from it.
Identify ‘a’, ‘b’, ‘c’, ‘d’, ‘e’ and ‘f’ in the table given below:
| S. No. | Syndrome | Cause | Characteristics of affected individuals | Sex (male/female/both) |
| 1. | Down’s | Trisomy of 21 |
‘a’ |
‘b’ |
| 2. | ‘c’ | XXY | Overall masculine development | ‘d’ |
| 3. | Turner’s | 45 with XO |
‘e’ |
‘f’ |
What is ‘syndrome’?
In which of the following disorders number of chromosomes present is 47?
(A) Turner’s syndrome
(B) Cushing’s syndrome
(C) Acquired Immuno - Deficiency Syndrome
(D) Down’s syndrome
Mention the symptoms of Phenylketonuria.
Match the Column-I with Column-II and choose the CORRECT answer
| Column-I | Column-II | ||
| P. | Klinefelter syndrome | i. | Mutation in autosomal gene |
| Q. | Thalassaemia | ii. | Mutation sex chromosome linked gene |
| R. | Down syndrome | iii. | Trisomy of autosome |
| S. | Colour blindness | iv. | Trisomy of sex chromosome |
Choose the correct option which appropriately classifies the following disorders into Mendelian and chromosomal disorders:
Colour blindness, Down syndrome, Sickle cell anaemia, Turner syndrome, Thalassemia, Haemophilia, Phenylketonuria, Klinefelter syndrome.
Thalassemia and sickle cell anemia are caused due to a problem in globin molecule synthesis. Select the correct statement.
The practice of analyzing inheritance patterns in human beings is called ______
