کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
1914759 | 1535174 | 2010 | 9 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Novel mutations in the sacsin gene in ataxia patients from Maritime Canada
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موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
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چکیده انگلیسی
We ascertained two families in Eastern Canada segregating a form of ataxia consistent with a recessive mode of inheritance. We performed a whole genome scan using dense SNP genotyping, and despite an absence of shared homozygosity in the families we defined linkage to a small region on chromosome 13. Direct DNA resequencing was employed to screen biologically relevant candidate genes in the interval, and two presumptive pathogenic mutations were found in the gene encoding sacsin. One variant is an obligate truncating mutation, the second is a missense variant in a highly conserved residue. Unexpectedly, one family was homozygous for the missense mutation, the other compound heterozygous for the two mutations. Our results expand the genotype phenotype correlation of mutations in the sacsin gene, and highlight the challenge of diagnosing genetically heterogeneous disorders on primarily clinical grounds. We demonstrate that whole genome genotyping on a modest scale can be productive in research, and potentially in a clinical context.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 288, Issues 1â2, 15 January 2010, Pages 79-87
Journal: Journal of the Neurological Sciences - Volume 288, Issues 1â2, 15 January 2010, Pages 79-87
نویسندگان
D.L. Guernsey, M.-P. Dubé, H. Jiang, G. Asselin, S. Blowers, S. Evans, M. Ferguson, C. Macgillivray, M. Matsuoka, M. Nightingale, A. Rideout, M. Delatycki, A. Orr, M. Ludman, J. Dooley, C. Riddell, M.E. Samuels,