Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington’s disease
- 1 January 1999
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 52 (2) , 392
- https://doi.org/10.1212/wnl.52.2.392
Abstract
Article abstract A patient with juvenile Huntington’s disease (HD) of probable maternal inheritance is reported. The expanded IT-15 allele was only detected with the use of modified PCR and Southern transfer techniques, which showed a CAG trinucleotide repeat expansion of approximately 250 repeats—the largest CAG expansion reported within the huntingtin gene. This case emphasizes the need for communication between the diagnostic laboratory and the clinician to define the molecular genetics of unusual cases.Keywords
This publication has 9 references indexed in Scilit:
- Southern transfer protocol for confirmation of Huntington diseaseClinical Chemistry, 1996
- Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1).Journal of Medical Genetics, 1994
- Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset.Journal of Medical Genetics, 1994
- Triplet repeat sequences in human DNA can be detected by hybridization to a synthetic (5'‐CGG‐3')17 oligodeoxyribonucleotideag]FEBS Letters, 1993
- Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat numberHuman Molecular Genetics, 1993
- Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parentHuman Molecular Genetics, 1993
- The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's diseaseNature Genetics, 1993
- A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomesMolecular and Cellular Probes, 1993
- A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington diseaseHuman Molecular Genetics, 1993