Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology

Introduction: Autism is an etiologically and clinically heterogeneous group of disorders, collectively referred to as the 2autism spectrum disorders3 (ASDs). Dopamine modulates a broad variety of processes, functions and behaviors that are abnormal in individuals with ASDs. The dopamine transporter gene (SLC6A3) is a key regulator of dopamine (DA) homeostasis and neurotransmission. Dopamine D1 receptor is encoded by the DRD1 gene which is clearly a good candidate for affecting autism risk or modifying the classical symptoms of autism. Aim of work: The aim of this study was to analyze the association between SLC6A3gene rs2550936 Single-nucleotide polymorphism (SNP) and DRD1 gene rs4532 SNP and autism susceptibility and their association with various clinical and laboratory data of the patients. Subjects and methods: This study included 50 autistic patients (36 males and 14 females) and 50 age and sex matched healthy controls for comparison. All patients were subjected to history taking, physical examination, language assessment, IQ and childhood autism rating scale (CARS) as well as analysis of SLC6A3 gene rs2550936 SNP and DRD1 gene rs4532 SNP using PCR-RFLP, which were done for both patients and healthy controls. Results: There has been a statistically significant relationship between the mother age at the time of birth of the patients and different genotypes of SLC6A3 gene in autistic patients (p-value =0.030). DRD1 rs4532 A/G and A/A genotypes frequencies were significantly higher in autistic patients (52%) compared to the healthy controls 40% P-value =0.043

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