کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2146163 | 1548314 | 2016 | 7 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysisâ
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موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
تحقیقات سرطان
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چکیده انگلیسی
In this study, two sets of multiplex polymorphic STR (Short Tandem Repeat) markers linked to the above genes were used to aid in homozygosity mapping in order to find probable pathogenic change(s) in the studied families. The families who showed homozygote haplotype for the BCKDHA gene were subsequently sequenced. Our findings showed that exons 2, 4 and 6 contain most of the mutations which are novel. The changes include two single nucleotide deletion (i.e. c. 143delT and c.702delT), one gross deletion covering the whole exon four c.(375 + 1_376-1)_(884 9+ 1_885-1), two splice site changes (c.1167 + 1G > T, c. 288 + 1G > A), and one point mutation (c.731G > A). Computational approaches were used to analyze these two novel mutations in terms of their impact on protein structure. Computational structural modeling indicated that these mutations might affect structural stability and multimeric assembly of branched-chain α-keto acid dehydrogenase complex (BCKDC).
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis - Volume 786, April 2016, Pages 34-40
Journal: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis - Volume 786, April 2016, Pages 34-40
نویسندگان
Maryam Abiri, Razieh Karamzadeh, Morteza Karimipoor, Shirin Ghadami, Mohammad Reza Alaei, Samira Dabagh Bagheri, Hamideh Bagherian, Aria Setoodeh, Mohammad Reza Noori-Daloii, Sirous Zeinali Sirous Zeinali,