期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
卷 133B, 期 1, 页码 124-126出版社
WILEY
DOI: 10.1002/ajmg.b.30088
关键词
Machado Joseph Disease/spinocerebellar ataxia 3; CAG repeat; repeat instability; haplotype; intermediate allele
We report a three generation Indian pedigree with the proband having 45 repeats at the Machado Joseph Disease (MJD)/spinocerebellar ataxia 3 (SCA3) disease locus. The proband exhibited clinical features of SCA and showed signs of cerebellar and brainstem atrophy on the MRI scan. The 45 repeat allele was unstable upon inter-generational transmission and was associated with a haplotype found in the majority of MJD/SCA3 patients from around the world. This is the smallest unstable allele reported till date at the MJD/SCA3 locus and may greatly reduce the gap between normal and pathological repeat ranges. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http:// www.interscience.wiley.com/jpages/0148-7299:1/suppmat/index.html. (C) 2005 Wiley-Liss, Inc.
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