Human Genetics And Molecular Medicine - Master Dissertation
Permanent URI for this collectionhttps://kr.cup.edu.in/handle/32116/104
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Item Association of UGT1A6 2 (Ser7Ala) polymorphism with therapeutic response to aspirin in ischemic stroke patients(Central University of Punjab, 2018) Kumar, Dharmendra; Munshi,AnjanaIschemic stroke occurs due to the formation of thrombus or embolism within the arteries due to platelet aggregation. Aspirin therapy is used for the prevention of secondary stroke. The variant of UGT1A6 (Ser7Ala) gene has been found to be associated with ischemic stroke as well as aspirin resistance. We aim to study the demographic profile of ischemic stroke patients from Malwa region of Punjab and to evaluate the frequency of UGT1A6*2 Ser7Ala polymorphism and correlate it with aspirin resistance and ADRs (if any). We collected 30 samples from confirmed ischemic stroke patients from Guru Gobind Singh Medical College and Hospital in Malwa region of Punjab. DNA was isolated from blood and PCR- RFLP technique was used to evaluate the UGT1A6 gene variant in the patients. mRS value was used to classify patients as responders or nonresponders. 24 patients had TT genotype and 6 patients were found to bear TG genotype. 90% of patients were aspirin responders and 10% were aspirin nonresponders. Since the sample size was too low to identify significant associations, a large number of samples should be screened before coming to a conclusion. However, this preliminary study indicates that UGT1A6*2 (Ser7Ala) variant of UGT1A6 gene might be a risk factor for aspirin resistance in the studied group.Item Association of COX-2 (rs20417) polymorphism with aspirin resistance and adverse drug reactions (if any) in ischemic stroke patients in Malwa region of Punjab.(Central University of Punjab, 2018) Kaur, Sukhvir; Munshi, AnjanaIschemic stroke pathology involves the formation of a thrombus over an unstable atherosclerotic plaque through various inflammatory and clotting cascades. Aspirin is the oldest antiplatelet agent with well-established efficacy in stroke prevention. COX2 gene with rs20417 polymorphism has been found to be associated with ischemic stroke as well as aspirin resistance. We aimed to study the demographic profile of ischemic stroke patients from Malwa region of Punjab and check the frequency of rs20417 variant of COX 2 gene and correlate it with aspirin resistance and ADRs (if any) in ischemic stroke patients. We collected 30 samples from confirmed stroke patients from Malwa region of Punjab. DNA was isolated from blood and subjected to PCR and RFLP to evaluate rs20417 in COX 2 gene in the patients. Their mRS score was used to classify patients as aspirin responders or aspirin non-responders. 96.66% patients were aspirin responders and 3.33% were non-responders. Twenty-nine patients were carriers of CC genotype, of which 27 were responders and 2 were non-responders. Only 1 patient with CG genotype was a non-responder. A larger number of samples need to be screened for the COX-2 G765C polymorphism before coming to a conclusion. This preliminary study indicates that COX-2 G765C variant of COX-2 gene may not be a risk factor for aspirin resistance in ischemic stroke patients from Malwa region of Punjab