کد مقاله کد نشریه سال انتشار مقاله انگلیسی ترجمه فارسی نسخه تمام متن
5534502 1402182 2017 5 صفحه PDF سفارش دهید دانلود کنید
عنوان انگلیسی مقاله
Short communicationA PCR-based protocol to accurately size C9orf72 intermediate-length alleles
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی بیولوژی سلول
پیش نمایش صفحه اول مقاله
Short communicationA PCR-based protocol to accurately size C9orf72 intermediate-length alleles
چکیده انگلیسی


- Large GGGGCC expansions in C9orf72 gene are frequent genetic cause of ALS and FTLD.
- Intermediate GGGGCC expansions in C9orf72 gene are also associated with ALS and FTLD.
- Intermediate-length alleles are also associated with other neurodegenerative diseases.
- Current PCR-based methods may lead to incorrect sizing of intermediate-length alleles.
- Our PCR-based protocol exactly sizes C9orf72 intermediate-length alleles.

Although large expansions of the non-coding GGGGCC repeat in C9orf72 gene are clearly defined as pathogenic for Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Lobar Degeneration (FTLD), intermediate-length expansions have also been associated with those and other neurodegenerative diseases. Intermediate-length allele sizing is complicated by intrinsic properties of current PCR-based methodologies, in that somatic mosaicism could be suspected. We designed a protocol that allows the exact sizing of intermediate-length alleles, as well as the identification of large expansions.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular and Cellular Probes - Volume 32, April 2017, Pages 60-64
نویسندگان
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