الوراثة الخلوية لدي أطفال اضطراب التوحد في دمشق

الموضوعات

طب

روابط وملفات

التعريف والنوع

رقم الوثيقة

f07a3a09-8ca6-43e6-bcfd-4997ad79d145

رقم العقد

0

نوع الوسائط

Crawler

نوع المحتوى

الرسائل العلمية

صيغة المصدر

رسائل ماجيستير

نوع الملف

pdf text

أسماء الملفات

1967207_1.pdf

بيانات النشر

ترجمة العنوان

The Cytogenetics Of Autism Disorder Children In Damascus

ألقاب المؤلفين

[{"name_ar":"عصام قاسم","title_ar":"اشراف","title_en":"Supervision"},{"name_ar":"محمد علي عجلوتي","title_ar":"اشراف","title_en":"Supervision"},{"name_ar":"هبة خليل المعدني","title_ar":"اعداد","title_en":"Preparation"}]

اللغة

Arabic

المصدر والدورية

اسم المصدر

الوراثة الخلوية لدي أطفال اضطراب التوحد في دمشق

المحتوى والصفحات

عدد الصفحات

0

ترجمة الملخص

Autism is the most important neurological disorders that attract worldwide attention, it characterized by deficit in social communication and interaction, and repetitive stereotyped behavior, it often develops at three-year-old in children. There are secondary causes behind autisticcases which are estimated between 5-10% as, the environmental factor, chromosomal abnormality, and singlegene disorder,in general many genes were studied which may play role in autism disorder,the expansion in CGGallele in the 5' untranslated region(5’UTR)of FMR1genewhichcaused fragile X syndrome is the most common, many cases of autism disorder associate with fragile x syndrome and their ratio are estimated 1-5%, individuals diagnosed with autism disorder clinically often advised to make a fragile X genetic analysis.Whereas about 90-95% remainidiopathic cases.Due to the lack of cellular and molecular genetic studies on autism disorder in the Arab region generally and Syria particularly. We aimed of 02this study to investigate the numerical and structural abnormalities in autistic patients, as well as studying the CGG allele expansion of FMR1 gene as step to detect the fragile X syndrome, and the its relationship with autism disorder and determinedrate of recurrence within the sample. This research which is applied for the first time in Syria,and it is established for deeper molecular genetics studies in the future.The sample included 40 autistics patients, we did for them cellular genetic study to detect the karyotype for each patient, weamplified the CGG triple repeat region of FMR1 gene forten autisticpatientswho seemed to have some clinical symptoms of the fragile X syndrome.Our results showed one case of karyotype abnormality (chromosomalnumerical abnormality), while the 39 remainingcases were normal. The results of amplifying CGG triple repeats showed two patients having mosaicism of CGG repeats, the first patient had two types of CGG repeats, the first type was normal repeatit was about (42 repeats) and the second type was premutationalleleand it was about (170 repeats). The second patient showed two types of triple CGG repeats, the first type was full mutation and the number of CGG repeats was (442 repeats), the second type was premutation allele (177 repeats). In the rest of cases we studied, the number of repeats were within the normal level, ranging between27–37 repeats.Though we concluded, the importance of studying autismdisorderat the genetic level and investigate the most important numerical and structural chromosomal abnormalities, which are responsible of autism 03disorder to estimate the actual prevalence rates, as well as to investigate theexpansion of CGGtriple repeatsallele in FMR1genewhen we dowidegeneticlaboratory scanning

كلمات الباحثين

أطفال اضطراب التوحد, الوراثة الخلوية, دمشق

إشراف وإعداد

الإشراف

عصام قاسم, محمد علي عجلوتي

الإعداد

هبة خليل المعدني

الاقتباسات الببليوغرافية