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Biochemistry

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Purines, Pyrimidines and Nucleic Acid Metabolism

Question
35 out of 59
 

Hemophilia is diagnosed by (AIPG 2010)



A Micro array
B Cytogenetics

C Linkage analysis
D RT PCR

Ans. D RT PCR

Explanation:

Physiology of factor VIII

a. FVIII is a glycoprotein procofactor. It has been found to be synthesized and released into the bloodstream by the vascular, glomerular, and tubular endothelium, and the sinusoidal cells of the liver, though there is still considerable ambiguity as to what the primary site of release in humans is.

b. In the circulating blood, it is mainly bound to von Willebrand factor to form a stable complex. Upon activation by thrombin, (Factor IIa), it dissociates from the complex to interact with Factor IXa in the coagulation cascade.

c. It is a cofactor to Factor IXa in the activation of Factor X, which, in turn, with its cofactor Factor Va, activates more thrombin. Thrombin cleaves fibrinogen into fibrin which polymerizes and crosslinks (using Factor XIII) into a blood clot.

d. No longer protected by vWF, activated FVIII is proteolytically inactivated in the process (most prominently by activated Protein C and Factor IXa) and quickly cleared from the blood stream.

e. Factor VIII is not affected by liver disease. In fact, levels usually are elevated in such instances.

Diagnosis of Hemophilia

a. The gene fragment of factor VIII might be amplified by the simple, fast and sensitive PCR technique and is especially suited to prenatal diagnosis using very small amounts of chorionic villi or amniocytes.

b. Restriction fragment length polymorphism (RFLPs) analysis of BclI was also performed. The sample, which could not be diagnosed by BclI, could be analyzed with RFLPs of XbaI.

c. Finally, DNA probe's Southern blotting analysis could be used for those samples which could not be diagnosed with XbaI. 85% of all hemophilia A cases could be diagnosed.

Purines, Pyrimidines and Nucleic Acid Metabolism Flashcard List

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