Study of Exon Deletion in the Dystrophin Gene in Individuals Being Diagnosed with Duchenne Muscular Dystrophy in Ahvaz
Background And Objective
Duchenne muscular dystrophy is an X-linked genetic disorder resulting from mutation or deletion in the Dystrophin gene. The aim of this study was to evaluate the primary diagnosis of affected individuals that have been referred to the genetic lab of the Shafa hospital in Ahvaz. Progressive muscle weakness was present in all the patients. Subjects and
DNA from peripheral blood was extracted from affected patients and subsequent multiplex-PCR was performed to determine putative deletions in the Dystrophin gene.
in 53% of cases were deletions identified in exons 44-51 in the Dystrophin gene and therefore the clinical diagnosis could be confirmed. On the other hand، we found no deletion in 47% of cases.
it seems that the patients suffering Duchenne muscular Dystrophy in Ahvaz show، independent to their ethnicity، the gene inactivating deletion in the end part of the Dystrophin gene. These results would be used for the differential and for the prenatal diagnosis in the Khuzestan province.
Jundishapur Scientific Medical Journal, Volume:10 Issue: 4, 2011
دانلود و مطالعه متن این مقاله با یکی از روشهای زیر امکان پذیر است:
اشتراک شخصی
با عضویت و پرداخت آنلاین حق اشتراک یک‌ساله به مبلغ 990,000ريال می‌توانید 70 عنوان مطلب دانلود کنید!
اشتراک سازمانی
به کتابخانه دانشگاه یا محل کار خود پیشنهاد کنید تا اشتراک سازمانی این پایگاه را برای دسترسی نامحدود همه کاربران به متن مطالب تهیه نمایند!
  • حق عضویت دریافتی صرف حمایت از نشریات عضو و نگهداری، تکمیل و توسعه مگیران می‌شود.
  • پرداخت حق اشتراک و دانلود مقالات اجازه بازنشر آن در سایر رسانه‌های چاپی و دیجیتال را به کاربر نمی‌دهد.
In order to view content subscription is required

Personal subscription
Subscribe for 50 € euros via PayPal and download 70 articles during a year.
Organization subscription
Please contact us to subscribe your university or library for unlimited access!