کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5905477 | 1159898 | 2015 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Canavan disease: An Arab scenario
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کلمات کلیدی
SIFT(CNS)polyphen2TRPV3ASPAN-acetyl-l-aspartate(NAA)Aspartoacylase - آسپارتاکیلازEpidemiology - اپیدمیولوژی(همهگیرشناسی)Adeno-associated viral vector - بردار ویروسی Adeno مرتبطCanavan disease - بیماری Canavanmutations - جهش یا میوتیشنcentral nervous system - سیستم عصبی مرکزیGenotype–phenotype correlation - همبستگی ژنوتیپ-فنوتیپArab countries - کشورهای عربی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
پیش نمایش صفحه اول مقاله
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چکیده انگلیسی
The autosomal recessive Canavan disease (CD) is a neurological disorder that begins in infancy. CD is caused by mutations in the gene encoding the ASPA enzyme. It has been reported with high frequency in patients with Jewish ancestry, and with low frequency in non-Jewish patients. This review will shed light on some updates regarding CD prevalence and causative mutations across the Arab World. CD was reported in several Arab countries such as Saudi Arabia, Egypt, Jordan, Yemen, Kuwait, and Tunisia. The population with the highest risk is in Saudi Arabia due the prevalent consanguineous marriage culture. In several studies, four novel mutations were found among Arabian CD patients, including two missense mutations (p.C152R, p.C152W), a 3346Â bp deletion leading to the removal of exon 3 of the ASPA gene, and an insertion mutation (698insC). Other previously reported mutations, which led to damage in the ASPA enzyme activities found among CD Arab patients are c.530 TÂ >Â C (p.I177T), c.79GÂ >Â A (p.G27R), IVS4Â +Â 1GÂ >Â T, and a 92Â kb deletion, which is 7.16Â kb upstream from the ASPA start site. This review will help in developing customized molecular diagnostic approaches and promoting CD carrier screening in the Arab world in areas where consanguineous marriage is common particularly within Saudi Arabia.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Gene - Volume 560, Issue 1, 10 April 2015, Pages 9-14
Journal: Gene - Volume 560, Issue 1, 10 April 2015, Pages 9-14
نویسندگان
Hatem Zayed,