الكشف عن التنميط الجيني لانزيم الميثيلين تتراهيدروفولات المختزل C677T لعيوب السنسنة المشقوقة باستخدام تقنية سلسلة البلمرة بنظام تضخيم الطفرة الحرارية رباعي البوادئ
DOI:
https://doi.org/10.21123/bsj.2024.9958الكلمات المفتاحية:
عيب الأنبوب العصبي، انشقاق العمود الفقري، إنزيم ميثيلين رباعي هيدروفولات اختزال، التنميط الجيني، سلسلة البلمرة بنظام تضخيم الطفرة الحرارية رباعي البوادئالملخص
عيوب الأنبوب العصبي هي تشوهات هيكلية معقدة عند الأطفال حديثي الولادة. تنجم هذه العيوب عن مزيج من العوامل الوراثية والبيئية في النمط الظاهري غير الطبيعي. تهدف الدراسة الحالية إلى تحديد تعدد أشكال التباين الوراثي في التنميط الجيني لإنزيم ميثيلين تتراهيدروفولات المختزل والكشف عن تعدد أشكال النوكليوتيدات المفردة في عينة الحمض النووي لمرضى السنسنة المشقوقة ومقارنتها مع الأطفال الاصحاء حديثي الولادة. تم جمع عينات الدم من الأطفال حديثي الولادة (50 طفلاً أقل من سنة واحدة) (25 حالة من حالات انشقاق العمود الفقري و25 حالة من الاصحاء). تم استخراج الحمض النووي وتضخيمه بواسطة تقنية تفاعل البلمرة المتسلسل لنظام تضخيم الطفرة الحرارية (تفاعل البلمرة المتسلسل لنظام الطفرة المقاومة للحرارة). تتكون تقنية تفاعل البلمرة الرباعي المضخم من أربعة بادئات (اثنان خارجيان واثنان داخليان) لتضخيم تسلسل الحمض النووي المستهدف للأنماط الجينية المختلفة (أليلات النوع البري والنوع الطافر). تشير النتائج إلى أن الطفرة الجينية للانزيم تتراهيدروفولات المختزل كانت مرتبطة بـالسنسنة المشقوقة عند الأطفال حديثي الولادة ويمكن ان يكون كمؤشر حيوي للكشف عن تطورأمراض السنسنة المشقوقة للاطفال حديثي الولادة.
Received 15/10/2023
Revised 29/04/2024
Accepted 01/04/2024
Published Online First 20/11/2024
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