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महाराष्ट्र राज्य शिक्षण मंडळएचएससी विज्ञान (सामान्य) इयत्ता १२ वी

‘The Gene for Sickle Cell Anaemia in Homozygous Condition is Lethal and Produces Sickle Cell Trait in Heterozygous Carrier’. Explain.

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प्रश्न

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. 

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उत्तर

Sickle cell trait describes a condition in which a person has one abnormal allellof the hemoglobin beta gene (is hetrozygous), but does not display the severe symptoms of sickle cell disese that occur in a person who has two copies of that allele (is hemozygous). Those who are heterozygous for the sickle cell allele produce both normal and abnormal hemoglobin (the two alleles are condominant with respect to the actual concentration of hemoglobin in the circulating cells).
Sickle cell disease is a blood disorder wherein there is a single amino acid substitution in the hemoglobin protein of the red blood cells which causes these cells to assume a sickle shape, especially when under low oxygen tension. Sickling and sickle cell disease also confer some resistance to malaria parasitization of red blood cells, so that individuals with sickle-cell trait (heterozygotes) have a selective advantage in environments where malaria is present.

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2017-2018 (July) Set 1

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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.

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