Triplet Repeat Primed PCR Simplifies Testing for Huntington Disease
نویسندگان
چکیده
منابع مشابه
Improved high sensitivity screen for Huntington disease using a one-step triplet-primed PCR and melting curve assay
Molecular diagnosis of Huntington disease (HD) is currently performed by fluorescent repeat-flanking or triplet-primed PCR (TP-PCR) with capillary electrophoresis (CE). However, CE requires multiple post-PCR steps and may result in high cost in high-throughput settings. We previously described a cost-effective single-step molecular screening strategy employing the use of melting curve analysis ...
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Huntington disease is caused by the expansion of a CAG repeat encoding an extended glutamine tract in a protein called huntingtin. Here, we provide evidence supporting the hypothesis that somatic increases of mutation length play a role in the progressive nature and cell-selective aspects of HD pathogenesis. Results from micro-dissected tissue and individual laser-dissected cells obtained from ...
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Huntington disease (HD) is an autosomal dominant neurodegenerative disorder associated with expansions of an unstable CAG trinucleotide repeat in exon 1 of the IT15 gene. In normal individuals, IT15 contains up to 35 CAG repeats, while in affected the repeat length is >36. Polymerase chain reaction (PCR) is used to estimate the number of CAG repeats but may be inefficient in long repeats becaus...
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I was interested to read the report of Goodship et al (J Med Genet 1995;32:746-8) of monozygotic (MZ) twins with a 22ql deletion who were discordant for cardiac defects. I have recently met a similar family where all the affected members have had a 22ql deletion detected by FISH. Twin 1 has a typical facial appearance of the velocardiofacial syndrome (figure) with nasal speech but no cardiac de...
متن کاملPerspectives towards predictive testing in Huntington disease.
OBJECTIVE Genetic counseling for individuals undergoing presymptomatic testing is lacking in India although testing is easily available. This has an impact on family members of Huntington's disease (HD), an autosomal dominant disease, wherein the age at onset of symptoms varies. AIM We examine if attitudes differ towards presymptomatic testing for HD amongst HD family members, physicians and ...
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ژورنال
عنوان ژورنال: The Journal of Molecular Diagnostics
سال: 2013
ISSN: 1525-1578
DOI: 10.1016/j.jmoldx.2012.09.005