Heteroduplex Formation in SMN Gene Dosage Analysis
نویسندگان
چکیده
منابع مشابه
Gene dosage analysis in Azotobacter vinelandii.
For more than a decade, Azotobacter vinelandii has been considered a polyploid bacterium on the basis of physical studies of chromosome size and DNA content per cell. However, as described in the present work, many genetic operations can be performed in A. vinelandii without the constraints expected in a polyploid bacterium: (i) reversion of transposon-induced mutations is usually associated wi...
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We report a child with clinical findings consistent with Werdnig-Hoffmann disease (spinal muscular atrophy type I) who was found not to have the homozygous absence of the survival motor neurone (SMN(T)) gene observed in approximately 95% of spinal muscular atrophy patients. A quantitative PCR based dosage assay for SMN(T) copy number showed that this patient possessed a single copy of the SMN(T...
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General DNA analysis includes detection of targets, as well as identification and quantification of specific variants. Genomic DNA exists in the form of homoduplexes, with all corresponding base pairs being complementary, A:T and C:G. We call a double-stranded DNA (dsDNA) molecule a heteroduplex when it contains any noncomplementary base pairs. Conformational and thermodynamic changes produced ...
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Previous studies of Saccharomyces cerevisiae have identified several meiosis-specific genes whose products are required for wild-type levels of meiotic recombination and for normal synaptonemal complex (SC) formation. Several of these mutants were examined in a physical assay designed to detect heteroduplex DNA (hDNA) intermediates in meiotic recombination. hDNA was not detected in the rec102, ...
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ژورنال
عنوان ژورنال: The Journal of Molecular Diagnostics
سال: 2001
ISSN: 1525-1578
DOI: 10.1016/s1525-1578(10)60666-6