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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.
Diagnosis X-ray chest shows cardiomegaly. ECG shows conduction defect, low voltage QRS, atrial and ventricular disrhythrnias. Echocardiogram - decreased LV cont
Placement of the Implant in an Infected Socket or a Pathologic Lesion Dental implants may fail due to: 1) Placement of the implant fixture into an infected socket (during im
For many of the mammalian Hox genes, it has been possible to determine that some of them are more similar to one of the insect HOM-C genes than to the others. Describe an experimen
How can the knowledge about fermentation explain the origin of muscle cramps and pains after intense physical exertion? A typical fermentation process because of oxygen scarcit
Chloroplasts are disk-like organelles with the double membrane found in the eukaryotic plant cells; contain thylakoids and are the site of photosynthesis. ATP is generated during
A lot of hemodynamic information including maximum and mean velocity, maximum and mean pressure gradients and pressure half time can be obtained from Doppler trace that helps in
Membrane Oxygenators: They are more physiological and are similar to natural lungs. There is separation of blood and gas by membrane across which gas exchange takes place. There
Industrial melanism refers to the dark pigmentation that evolved in some insects giving them protective coloration on vegetation darkened by soot in heavily industrialized areas pr
a) Explain somatic hybridisation? b) Describe the various steps involved in the process. Mention any two uses of somatic hybridisation
- The chromosomes at each pole uncoil and elongate to form the chromatin. - A nucleolus reappears at each pole. - Spindle fibers and asters disappear and centrioles split. - A nu
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