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العنوان
Evaluation of Serotonin Receptor ( HTR2A ) (rs6313 and rs7997012) Gene Polymorphism in Egyptian Autistic Children /
المؤلف
El-Sawy, Mona Maamoun Ahmed,
هيئة الاعداد
باحث / مىي مأمون احمد الصاوي
مشرف / روحيه حسن العدل
مناقش / ثريا أحمد عمر
مناقش / حىان أوور الشوربجي
الموضوع
Clinical Pathology. Autism spectrum disorders. Autism in children.
تاريخ النشر
2023.
عدد الصفحات
140 p. :
اللغة
الإنجليزية
الدرجة
الدكتوراه
التخصص
الطب (متفرقات)
تاريخ الإجازة
29/7/2023
مكان الإجازة
جامعة المنوفية - كلية الطب - قسم الباثولوجيا الاكلينيكية
الفهرس
Only 14 pages are availabe for public view

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from 154

Abstract

Autism Spectrum Disorder is a diagnostic category that contains a group of neurodevelopmental disorders with varying degrees of severity, sharing a common core symptoms include deficits of social communication and interaction, and repetitive behaviors with restricted interests and activities and sensory anomalies, beginning in the early developmental period. ASD first appears during infancy or childhood, and generally follows a steady course without remission.
ASD is most likely caused by multiple factors interacting in complex ways genetic, biological, environmental, and developmental.
There is strong evidence for the importance of complex genetic factors comprised of different forms of genetic variation in the etiology of ASD.
Serotonin is a monoamine neurotransmiter, synthesized from the essential amino acid tryptophane, and plays an important role in brain development, during the prenatal and postnatal period. It regulates emotional expression, social behavior, and proliferation of immune system cells.
The human serotonin receptor HTR2A gene has been cloned and mapped to the chromosome 13q14–q21 region, it consists of 3 exons and 2 introns and encodes a 471 amino acid mature protein.
The aim of this study was to evaluate the association of HTR2A (rs6313 and rs7997012) gene polymorphisms and correlate it with serum level of serotonin in Egyptian Autistic children.
This study included 50 children with ASD attending at Phoniatric outpatient clinic, Menoufia University hospitals in addition to 50 apparently clinically healthy children with age, gender matched as controls.
Inclusion criteria:
Children who had been diagnosed with ASD by an expert clinician depending on CARS test.
Exclusion criteria:
 Diseases that may affect language development e g: Hearing impairment
 Any child with psychiatric or medical illness and any organic brain lesion.
 Children who take drugs such as selective serotonin reuptake inhibitors.
Three milliliters of venous blood were withdrawn by venipuncture from all subjects and divided as follow:
 1.5 milliliters were collected in a plain vacutainer, left for
10 minutes to clot and centrifuged at 3000 rpm for 10 minutes to separate the sera, sera were kept at -80℃
until time of analysis of serum serotonin level.  1.5 milliliters were collected in sterile vacutainer
containing EDTA for genotyping.