کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6804749 | 1433558 | 2015 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
A small deletion in C9orf72 hides a proportion of expansion carriers in FTLD
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
پیش نمایش صفحه اول مقاله
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چکیده انگلیسی
Frontotemporal lobar degeneration is a highly familial disease and the most common known genetic cause is the repeat expansion mutation in the gene C9orf72. We have identified 2 brothers with an expansion mutation in C9orf72 using Southern blotting that is undetectable using repeat-primed polymerase chain reaction. Sequencing using high concentrations of DNA denaturants of a bacterial artificial chromosome clone obtained from one of the brothers identified a 10-base pair deletion adjacent to the expansion that presumably confers strong secondary structure that interferes with the genotyping. Using an alternative method, we have identified missed expansion carriers in our cohort, and this number has increased by approximately 25%. This observation has important implications for patients undergoing genetic testing for C9orf72.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neurobiology of Aging - Volume 36, Issue 3, March 2015, Pages 1601.e1-1601.e5
Journal: Neurobiology of Aging - Volume 36, Issue 3, March 2015, Pages 1601.e1-1601.e5
نویسندگان
Sara Rollinson, Janis Bennion Callister, Kate Young, Sarah J. Ryan, Ronald Druyeh, Jonathan D. Rohrer, Julie Snowden, Anna Richardson, Matt Jones, Jenny Harris, Yvonne Davidson, Andrew Robinson, John Ealing, Janel O. Johnson, Bryan Traynor, Simon Mead,