alexa Mutation Screening of MEFV and TNF Gene in Pakistani Pa
ISSN: 2155-9899

Journal of Clinical & Cellular Immunology
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Research Article

Mutation Screening of MEFV and TNF Gene in Pakistani Patients with Rheumatic Heart Disease: A Case Control-Study

Sadia Rehman1*, Nafees Ahmad1, Naveed Akhtar2, Sooda Usman1, Saeeda Munir1, Nusrat Saba1, Waqar Ahmed3, Asif Mir4, Abdul Hameed1, Aisha Mohyuddin2 and Azra Khanum5
1Institute of Biomedical and Genetic Engineering Islamabad, G9/1 Mauve Area, 44000, Pakistan
2Shifa College of Medicine, Shifa Tameer-e-Millat University H-8 Islamabad, Pakistan
3Armed Forces Institute of Cardiology & National Institute of Heart diseases, the Mall Rawalpindi, Pakistan
4Islamic International University, Islamabad, Pakistan
5Pir Mehr Ali Shah Arid Agriculture University, Shamshahbad Murree road, Rawlpindi, Pakistan
Corresponding Author : Dr. Sadia Rehman
Institute of Biomedical and Genetic Engineering Islamabad
G9/1 Mauve Area, 44000, Pakistan
Tel: 92 (51) 9106281
Fax: 92 (51) 9106283
E-mail: [email protected]
Received: October 28, 2015; Accepted: December 28, 2015; Published: December 31, 2015
Citation: Rehman S, Ahmad N, Akhtar N, Usman S, Munir S, et al. (2015) Mutation Screening of MEFV and TNF Gene in Pakistani Patients with Rheumatic Heart Disease: A Case Control-Study. J Clin Cell Immunol 6:382. doi:10.4172/2155-9899.1000382
Copyright: © 2015 Rehman S, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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Abstract

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.G2,096A) in exon 2 of MEFV gene. Computational analysis revealed that this mutation (p.S179N) severely affect the threedimensional structure of the protein and thus probably has a pathogenic role. However, this mutation was identified in two patients only.

Conclusion: Hence, contribution of this mutation is expected to be very small in Pakistani patients. Our results showed a novel mutation with pathogenic effect in a very small proportion of the RHD patients in Pakistan. However, majority of the patients may have mutation outside the hot spot region of MEFV gene or there are other susceptibility factors that are contributing toward high prevalence of RHD in Pakistan. Therefore, it is important to screen the complete MEFV gene and other genetic susceptibility factors to understand etiology of RHD and thus manage its increasing incidence.

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