CONTENTS



CONTENTS

Title Page

DEDICATION iii

ACKNOWLEDGEMENT iv

CONTENTS vi

LIST OF TABLES ix LIST OF FIGURES xi

LIST OF ABBREVIATIONS xii

AIMS AND OBJECTIVES xiv

ABSTRACT IN ENGLISH xv

ABSTRACT IN ARABIC xvii

CHAPTER I: INTRODUCTION 1

I.1 BEHÇET'S DISEASE 2

I.1.1 Historical Background 2

I.1.2 Epidemiology 4

I.1.3 Diagnosis 6

I.1.4 Clinical Manifestations 8

I.1.4.1 Oral Ulcerations 10

I.1.4.2 Genital Ulcers 12

I.1.4.3 Cutaneous Manifestations 12

I.1.4.4 Ocular Lesions 13

I.1.4.5 Articular Manifestations 14

I.1.4.6 Vascular Manifestations 15

I.1.4.7 Neuro - Behçet’s Disease 16

I.1.4.8 Gastrointestinal Involvement 16

I.1.4.9 Other Rare Findings 16

I.1.5 Pathology 17

I.1.6 Etiopathogenesis 18

I.1.6.1 Behçet’s Disease-An Infective Etiology 18

I.1.6.2 Heritable Risk Factors for Behçet's Disease 20

I.1.7 Laboratory Findings 25

I.1.8 Treatment 26

I.1.9 Prognosis 26

I.2 FAMILIAL MEDITERRANEAN FEVER 28

I.2.1 MEFV Gene and Pyrin 28

I.2.2 MEFV Mutations 34

I.3 ASSOCIATION BETWEEN BD AND FMF 40

CHAPTER II: MATERIALS AND METHODS 43

II.1 STUDY GROUP 44

II.1.1 Patients 44

II.1.2 Diagnostic Criteria 44

II.2 SAMPLES PROCESSING 47

II.2.1 Buffy Coat DNA Purification Protocol 47

II.2.2 Genomic DNA Quantification 48

II.3 MUTATIONS ANALYSIS 49

II.3.1 Polymerase Chain Reaction 49

II.3.2 Amplification Refractory Mutation System 50

II.4 AGAROSE GEL ELECTROPHORESIS 55

II.5 DIRECT DNA SEQUENCING 56

II.5.1 Exon 10 Amplification Conditions 56

II.5.2 Exon 10 Fragments Purification from

Gel Bands Protocol 57

II.5.3 Automated Sequencing 59

II.6 STATISTICAL ANALYSIS 59

CHAPTER III: RESULTS 60

III.1 CLINICAL DATA 61

III.2 DISTRIBUTION OF MEFV SEQUENCE

VARIATIONS 66

III.3 GENOTYPE – PHENOTYPE CORRELATION 77

III.4 DISTRIBUTION OF FACTOR V LEIDEN

MUTATION 80

CHAPTER VI: DISCUSSION 82

REFERENCES 104

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