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Sickle cell anaemia in man is caused by a defective chain of haemoglobin. The abnormal haemoglobin known as MbS differs from natural haemoglobin (HhA) in one amino acid. A substitutional mutation causes the replacement of glutamic acid by valine in the sixth position from the amino terminal end of the Q chain polypeptide. This is because instead of the triplet GAA or GAG which codes for glutarnic acid in normal chains, the abnormal mRNA has GUA or GUG which codes for valine. IdbS in deoxygenated state precipitates out of solution forming elongate crystals. 'The formation of crystals in turn produces a characteristic deformation of RBCs and the cells acquire a crescent or sickle shape, hence the name sickle cell anaemia. The deformation of red cell weakens the red cell membrane and lyses the cells. The loss of red cells and haemoglobin leads to anaemia and this causes oxygen deficiency to the tissues per unit time. Pt, single substitution, more specifically, replacing the thymine by adenine in the second position of the sixth triplet of the P chain gene triggers a variety of responses that affects several aspects of the pfnysiology of the organism. Individuals who are homozygous (HbSiHbS) for the gene usually die early in life. In heterozygotes some proporrion of red cells lyse periodically but this does not cause any serious harm to the individual and in any case the survival is not affected.
What are enzyme cofactors? Some enzymes require other associated molecules to work. These molecules are known as enzyme cofactors and they can be, for example, organic ions lik
A genomic DNA library is made from the genomic DNA of an organism. For instance, a mouse genomic library could be made by digesting mouse nuclear DNA with a restriction nuclease to
Treatment of Lyme Disease Lyme disease in North America is caused by the spirochete Borrelia burgdorferi, which is transmitted to humans by Ixodes scapularis or pacificus tick
Explain what is pulse ? Examination of peripheral pulses as a very important step in cardiovascular examination. A normal pulse has upstroke (anacrotic limb) followed by a down
Q. How are animals divided according to their kind of digestive process? At a distance from sponges that do not have a digestive cavity where extracellular digestion takes plac
what is photo-respiration
What is the Results of Congenital Pulmonary Stenosis? Early mortality for open pulmonary valvotomy in neonates varies between 6 and 10 per cent. For infants and children, surgi
Explain about the Protein-Energy Ratio (NDP Cal%)? Platt and his colleagues (1961) are largely responsible for the introduction of the ratio of protein energy to total energy (
It is defined as the amount of heat liberated when one unit mass of fuel is burnt and the products of combustion are allowed to escape. LCV = HC
HOMEOS T ASI S - Homeo = same, Stasis = state Living beings maintain their internal environment by self regulating system, it is called homeostasis. Term coined by
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