تحسين قائمة فحص طفرات جين حمى حوض البحر الابيض المتوسط في قطاع غزة-فلسطين

Sultana, Ahmed M. (2020) تحسين قائمة فحص طفرات جين حمى حوض البحر الابيض المتوسط في قطاع غزة-فلسطين. Masters thesis, الجامعت الإسلامية-بغزة عمادة البحث العلمي والدراسات العليا -كلية العلوم الصحية -ماجستير العلوم الطبية المخبريت.

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Abstract

Problem: Familial Mediterranean Fever (FMF) is an autosomal recessive and most common monogenic auto inflammatory disorder caused by mutation in MEFV gene that is responsible of encoding pyrin protein that is considered as an important player in inflammatory response. This is life-threating disease if not diagnosed early or not treated because it has a danger complication namely amyloidosis that lead to renal failure. Objectives: The present study aims to determine the prevalence of the MEFV mutations: p.R653H, p.A744S, p.K695R, p.P369S and p.F479L in FMFdiagnosed Palestinian patients. Methodology: This study was performed on DNA stored samples from 70 patients dwelling in Gaza who were clinically diagnosed with FMF. Amplification refractory mutation system (ARMS); polymerase chain reaction (PCR) technique was applied to analyze the following mutations: p.R653H, p.A744S, p.K695R, p.P369S and p.F479L. Results: Of the 140 studied alleles, 10 (7%) from these alleles were positive for one mutation and 130 (93%) had no mutations detected. Four mutations were detected namely: p.R653H, p.A744S, p.P369S and p.F479L. In addition, one mutation was not detected in any patient namely: p.K695R. The p.R653H, p.A744S, p.P369S and p.F479L were encountered at 2.14, 1.43, 1.43 and 2.14%, respectively. Conclusions & Recommendations: In the present study, we screened 70 FMF DNA samples for five mutations: p.R653H, p.A744S, p.K695R, p.P369S and p.F479L. Only 7 % of the mutant alleles could be identified and 93 % did not have any of these five mutations. This finding indicates that two types of mutation were heterozygous and compound heterozygous. The high frequency was for p.R653H and p.F479L mutations with 4.28% of the mutant FMF alleles. The mutation p.K695R was not detected in any of the mutant FMF alleles. MEFV gene exons sequencing, must be carried out in order to identify all possible mutations circulating in the Palestinian Gaza Strip FMF patients. Keywords: Familial Mediterranean Fever, ARMS, PCR, FMF, Gaza-Palestine.

Item Type: Thesis (Masters)
Subjects: Q Science > Q Science (General)
Depositing User: أ. دارين علي أحمد حمد
Date Deposited: 23 Nov 2020 11:20
Last Modified: 23 Nov 2020 11:20
URI: http://scholar.alaqsa.edu.ps/id/eprint/2608

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