Nusrat Saba
Pakistan
Research Article
Mutation Screening of MEFV and TNF Gene in Pakistani Patients with Rheumatic Heart Disease: A Case Control-Study
Author(s): Sadia Rehman, Nafees Ahmad, Naveed Akhtar, Sooda Usman, Saeeda Munir, Nusrat Saba, Waqar Ahmed, Asif Mir, Abdul Hameed, Aisha Mohyuddin and Azra KhanumSadia Rehman, Nafees Ahmad, Naveed Akhtar, Sooda Usman, Saeeda Munir, Nusrat Saba, Waqar Ahmed, Asif Mir, Abdul Hameed, Aisha Mohyuddin and Azra Khanum
Background: Rheumatic heart disease (RHD) is an inflammatory autoimmune cardiovascular disorder. The disease is highly prevalent in both urban (22 per 1000 individuals) and rural (5.7 per 1000 individuals) areas of Pakistan. The main purpose of this research work was to examine the role of two most widely studied genes, MEFV and TNF in the susceptibility of RHD in Pakistani patients.Methods and Materials: In total 360 samples, including 156 clinically diagnosed RHD patients and 204 healthy controls were included in the study. Single strand conformational polymorphism (SSCP) and direct DNA sequencing approach were used to identify the genetic changes in TNF exons and hot spots of MEFV gene.Results: No genetic variation in the two genes was detected in this study except a novel mutation (g.. View More»
