کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
1915796 | 1535193 | 2008 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Molecular analysis of spinocerebellar ataxia trinucleotide repeat behavior in normal individuals of a Brazilian population
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
There is a current lack of molecular studies analyzing the behavior of trinucleotide repeat expansions causative of Late Onset Spinocerebellar Ataxias in the Brazilian population. Therefore, this manuscript analyses normal families, as well as one hundred normal individuals of the Espirito Santo State to determine the trinucleotide repeat behavior and the allelic frequencies found in this population. The analysis of normal families demonstrated that, instead of being always stably transmitted over generations, expansions can occur between two generations of unaffected individuals, possibly contributing for the appearance of the ataxic phenotype. Allelic frequency studies demonstrated that some alleles are prevalent in the population, namely, allele 32 for the ATXN1 locus (21.5%); allele 21 for the ATXN2 locus (50%); allele 21 and 23 for the ATXN3 locus (14% each); allele 12 for the ATXN6 locus (21%) and allele 10 for the ATXN7 locus (22.5%).
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 269, Issues 1â2, 15 June 2008, Pages 113-117
Journal: Journal of the Neurological Sciences - Volume 269, Issues 1â2, 15 June 2008, Pages 113-117
نویسندگان
Eldamária de Vargas Wolfgramm, Fernanda Magri de Carvalho, Mariana Penha De Nadai Sartori, Ãngela Maria Spagnol Perrone, Flávia de Paula, Iúri Drumond Louro,