ARSA gene mutation analysis in 5 patients with metachromatic leukodystrophy
Author(s):
Article Type:
Research/Original Article (بدون رتبه معتبر)
Abstract:
Metachromatic leukodystrophyis a kind of lysosomal storage disorder caused by a deficiency in the ARSA enzyme, which is involved in the metabolism of membrane sulfatides into galactosylceramide. ARSA gene mutation analysis is likely to be in increasing demand for the accurate detection of heterozygous carriers and for prenatal diagnosis in families with a metachromatic leukodystrophy proband. This study examined the sequence of the ARSA gene in 7 patients with metachromatic leukodystrophy by exon Sanger sequencing. Eleven mutations were found in the ARSA gene. It was further found that five mutations were probably damaging to the protein activity with a high score and specificity. The results pave the way to a more effective method for career detection , genetic diagnosis, and the counseling of Iranian patients with MLD disorder.
Keywords:
Language:
English
Published:
Personalized Medicine Journal, Volume:5 Issue: 18, Summer 2020
Pages:
14 to 16
https://magiran.com/p2212563
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 1,390,000ريال 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!
توجه!
- 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 magiran.com for 70 € euros via PayPal and download 70 articles during a year.
Organization subscription
Please contact us to subscribe your university or library for unlimited access!