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Nilanjan Bhowmick AIR 3, CSIR NET (Earth Science)
Priya Lahorani posted an Question
January 26, 2022 • 01:34 am
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30 points
30 points
- CSIR NET
- Life Sciences
114. sickle cell anemia is a recessive genetic disease caused due to a point mutation in the 6th codon abolishing one of the mspll endonuclease digestion site p
114. Sickle cell anemia is a recessive genetic disease caused due to a point mutation in the 6th codon abolishing one of the Mspll endonuclease digestion site present in the B-globin gene. Mspll digested DNA from a normal person gives two bands. 1150 bp and 200 bp. in beta-globin gene. A family with a proband (based on the disease phenotype) gave the following Mspll digestion pattern. The following conclusions were drawn: A)Son (I) is the proband and the given mutation is not present in Son (II) . B) The daughter is a carrier for the given mutation. C) . The gene is X-linked and thus Son (I) . becomes the proband. D.)The father and daughter are affected E.) A de novo mutation in same site on normal allele has allowed appearance of diseased phenotype in the proband ........... . Which of the following combination of conclusions wilt be the most appropriate for the fgure gven above?
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Krishan k jakhad![best-answer]()
1. A, B and E are correct. C statement is incorrect since it is not X linked...chr.11 actually have beta globin gene. for information: A group of disorders that cause red blood cells to become misshapen and break down. With sickle cell disease, an inherited group of disorders, red blood cells contort into a sickle shape. The cells die early16-20 days, leaving a shortage of healthy red blood cells (sickle cell anaemia) and can block blood flow causing pain (sickle cell crisis). Sickle-cell anemia is caused by a point mutation in the β-globin chain of hemoglobin, causing the hydrophilic amino acid glutamic acid to be replaced with the hydrophobic amino acid valine at the sixth position. The β-globin gene is found on the short arm of chromosome 11. A person serving as the starting point for the genetic study of a family is actually proband.
sir please explain what point number E is saying...