A rapid method for sequencing trinucleotide repeats
نویسندگان
چکیده
منابع مشابه
Trinucleotide Repeats: A Structural Perspective
Trinucleotide repeat (TNR) expansions are present in a wide range of genes involved in several neurological disorders, being directly involved in the molecular mechanisms underlying pathogenesis through modulation of gene expression and/or the function of the RNA or protein it encodes. Structural and functional information on the role of TNR sequences in RNA and protein is crucial to understand...
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the hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. frequently, atrophy of the cerebellum occurs. the hereditary ataxias are categorized by mode of inheritance and causative gene or chromosomal locus. genetic forms of ataxia must be distinguished from t...
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Major insights have been attained into the molecular pathology of the trinucleotide repeat neurodegenerative diseases over the past decade. Genetic definition has allowed subclassification into translated polyglutamine diseases, which are due to CAG repeat expansions, and a more heterogeneous group in which the trinucleotide repeat remains untranslated. The polyglutamine disorders are due to a ...
متن کاملG-Quadruplex formation using fluorescent oligonucleotides as a detection method for discriminating AGG trinucleotide repeats.
We have developed a simple and sensitive system for detecting AGG trinucleotide repeats through the formation of intermolecular G-quadruplexes using a fluorescent oligonucleotide. The fluorescence signal increased rapidly and dramatically by 44.7-fold with respect to the low background signal in the presence of RNA agg repeats and by 35.0-fold in the presence of DNA AGG repeats.
متن کاملTrinucleotide repeats in human genome and exome
Trinucleotide repeats (TNRs) are of interest in genetics because they are used as markers for tracing genotype-phenotype relations and because they are directly involved in numerous human genetic diseases. In this study, we searched the human genome reference sequence and annotated exons (exome) for the presence of uninterrupted triplet repeat tracts composed of six or more repeated units. A li...
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ژورنال
عنوان ژورنال: Nucleic Acids Research
سال: 1993
ISSN: 0305-1048,1362-4962
DOI: 10.1093/nar/21.21.4983