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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
Why are color-blindness and thalassaemia categorised as Mendelian disorders? Write the symptoms of these diseases seen in people suffering from them.
A child suffering from Thalassemia is born to a normal couple. But the mother is being blamed by the family for delivering a sick baby.
(a) What is Thalassemia?
(b) How would you counsel the family not to blame the mother for delivering a child suffering from this disease? Explain.
(c) List the values your counselling can propagate in the families.
What is ‘syndrome’?
Name the disorder caused by under secretion of thyroxine in children
State any two symptoms of Down’s syndrome.
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.
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.
Klinefelters’ syndrome is characterised by a karyotype of ______.
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?
In Down's syndrome, karyotyping has shown that the disorder is associated with trisomy of chromosome number 21 usually due to ______.
