Book Review: Juvenile Huntington’s Disease and Other Trinucleotide Repeat Disorders
نویسندگان
چکیده
منابع مشابه
Non-coding trinucleotide repeat disorders
| The underlying genetic mutations for many inherited neurodegenerative disorders have been identified in recent years. One frequent type of mutation is trinucleotide repeat expansion. Depending on the location of the repeat expansion, the mutation might result in a loss of function of the disease gene, a toxic gain of function or both. Disease gene identification has led to the development of ...
متن کاملFragile X and other trinucleotide repeat diseases.
Hereditary unstable DNA is composed of strings of trinucleotide repeats, in which three nucleotides are repeated over and over (ie CAGCAGCAGCAG). These repeats are found in several sites within genes; depending on their location, the number of triplet repeats in a string can change as it is passed on to offspring. When the number of repeats increases to a critical size, it can have a variety of...
متن کاملTrinucleotide repeat expansion and human disease.
Eleven human loci, responsible for nine diseases, exhibit an unprecedented form of mutation: the expansion of trinucleotide repeats. Normally polymorphic CGG/CCG or CAG/CTG repeats (means of approximately 20 triplets) are found enlarged to either 2-3 or 10-1000 times normal lengths. The smaller expansions are found within genes coding for polyglutamine and are associated with neurodegenerative ...
متن کاملTrinucleotide repeat length and progression of illness in Huntington's disease.
The genetic defect causing Huntington's disease (HD) has been identified as an unstable expansion of a trinucleotide (CAG) repeat sequence within the coding region of the IT15 gene on chromosome 4. In 50 patients with manifest HD who were evaluated prospectively and uniformly, we examined the relationship between the extent of the DNA expansion and the rate of illness progression. Although the ...
متن کاملTrinucleotide repeat analysis of Huntington's disease gene in Singapore.
INTRODUCTION Huntington's disease (HD) is an inherited neurodegenerative disorder characterised by chorea and progressive dementia. The mutation causing the disease has been identified as an unstable expansion of a trinucleotide (CAG)n. We have assessed the (CAG)n repeats in the patients and controls in our population. MATERIALS AND METHODS Polymerase chain reactions (PCRs) for the repeat reg...
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ژورنال
عنوان ژورنال: Developmental Medicine & Child Neurology
سال: 2009
ISSN: 0012-1622
DOI: 10.1111/j.1469-8749.2009.03468.x