کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3327945 1590633 2008 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
A Pseudo-Full Mutation Identified in Fragile X Assay Reveals a Novel Base Change Abolishing an EcoRI Restriction Site
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی انفورماتیک سلامت
پیش نمایش صفحه اول مقاله
A Pseudo-Full Mutation Identified in Fragile X Assay Reveals a Novel Base Change Abolishing an EcoRI Restriction Site
چکیده انگلیسی

Diagnostic testing for the fragile X syndrome is designed to detect the most common mutation, a CGG expansion in the 5′-untranslated region of the fragile X mental retardation (FMRI) gene. PCR can determine the number of CGG repeats less than 100, whereas Southern analysis can detect large premutations, full mutations, and their methylation status. Bands larger than 5.8 kb observed via Southern analysis are usually considered a methylated full mutation, causing fragile X syndrome in males and varied clinical presentations in females. We observed a 10.9-kb band on a Southern blot assay from an autistic girl with language delay. Further investigation identified a novel G-to-A transition at an EcoRI cleavage site, upstream of the CGG repeat region of the FMRI gene. This base change abolished the EcoRI restriction site, resulting in a 10.9-kb pseudo-full mutation. This G-to-A base change has not been previously reported and was not identified in a subsequent analysis of 105 male and 30 female patient samples. The clear 10.9-kb band detected on a Southern blot assay for fragile X syndrome mimics a large, methylated full mutation, which could result in a misdiagnosis without the benefit of family studies and further testing.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: The Journal of Molecular Diagnostics - Volume 10, Issue 5, September 2008, Pages 469–474
نویسندگان
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