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प्रश्न
Give an example of a human disorder that is caused due to a single gene mutation.
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).
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संबंधित प्रश्न
Identify 'a', 'b', 'c',’d’, 'e' and 'f' in the table given below:
| No. | Syndrome | Cause | Characteristics of affected individuals | Sex Male/Female/Both |
| 1. | Down's | Trisomy of 21 | 'a' (i) (ii) |
'b' |
| 2. | 'c' | XXY | Overall masculine development. |
'd' |
| 3. | Turner's | 45 with XO | 'e' (i) (ii) |
'f' |
Mention any two autosomal genetic disorders with their symptoms.
Match the column-I with column-II and re-write the matching pairs.
| Column-I | Column-II |
| 1. 21 trisomy | a. Turner’s syndrome |
| 2. X-monosomy | b. Klinefelter’s syndrome |
| 3. Holandric traits | c. Down's syndrome |
| 4. Feminized male | d. Hypertrichosis |
Identify I and II in the given diagram of chromosome.
A short stature with webbing of neck and low posterior hairline indicates ______ syndrome.
If a genetic disease is transferred from a phenotypically normal but carrier female to only some of the male progeny, the disease is ______.
A person with 47 chromosomes due to an additional Y-chromosome suffers from a condition called ______.
Select the disease which is caused by recessive autosomal genes when present in homozygous conditions.
Mongolism is a genetic disorder which is caused by the presence of an extra chromosome number ______.
Read the following and answer from given below:
Turner's syndrome is an example of monosomy. It is formed by the union of an allosome-free egg and a normal 'X' containing sperm or a normal egg and an allosome-free sperm. The individual has 2n = 45 chromosomes (44 + X0) instead of 46. Such individuals are sterile females who have rudimentary ovaries, underdeveloped breasts, small uterus, short stature, webbed neck, and abnormal intelligence. They may not menstruate or ovulate. This disorder can be treated by giving female sex hormones to women from the age of puberty to make them develop breasts and have menstruation. This makes them feel more normal.
Which of the following statements regarding Turner's syndrome is incorrect?
