Molecular Genetics of Muscle Dystrophy

إن سغل العضلات في الطفولة مرض وراثي قد يتطور مؤدياً إلى الوفاه والوراثة طرزان طراز LINKED والصبغة الوراثية المتنحيه. وفي الحالة الأولي ينقص بروتين الغلاف العضلي ، أما في الحالة الثانية ينقص البروتين السكري، تهدف الدراسة إلى قياس إذا ما كانت نفس الصبغات الغير طبيعية توجد في الأطفال الكويتين وغيرهم من الأطفال العرب المصابين بسغل المعضلات وذلك بقياس نقص أو توفر المضادات الطبيعية والغير طبيعية في النسيج العضلي للمرضي . وسيقاس نقص الجينات الوراثية بإستخدام PCR technology ، ومن المتوقع أن تؤدى الدراسة إلي تحسن ملحوظ في تشخيص وعلاج مرض سفل العضلات

Molecular genetic analysis of DMD families from Kuwait have been ongoing. The data included in this progress report has been obtained from studies carried out during the six months reporting period i.e. July 1995-January 1996. Dystrophin immuno- histochemical staining was carried out on muscle biopsy specimens obtained from 5 patients suffering from neuromuscular disorders. 2/5 patients showed absence of dystrophin confirming their diagnosis of DMD while the three others had normal dystrophin staining. To date 25 muscle biopsies have been carried out and in 7 cases no dystrophin staining could be detected confirming the diagnosis of DMD. A total of 43 blood samples from 8 Kuwaiti families were screened for the presence of dystrophin gene deletions using multiplex PCR analysis during this reporting period. Deletions were detected in 14 samples of which 9 samples were from female carriers. In 5/9 affected boys deletions were detected giving the detection rate of 56% by this system. Of the 9 female carriers, 4 were the carrier mothers and 5 were carrier sisters. The deleted exons were localized in either the proximal hot spot region or the distal hot spot region. Exons 45 and 48 were most frequently deleted (33% cases respectively). None of the DMD patients showed deletion of exon 44