Genetic analysis of a family from India with Machado-Joseph disease

{Figure 1} The CAG repeat fragment of ATXN3 was amplified by polymerase chain reaction followed by sizing on a ABI 3500XL DNA analyzer (ThermoFisher Scientific Inc., Waltham, MA, USA). {Figure 3} Previous studies have found an inverse correlation of the age of onset of MJD with the size of the expan...

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Bibliographic Details
Published in:	Neurology India Vol. 67; no. 2; pp. 582 - 588
Main Authors:	Anjanappa, Ram, Jain, Sanjeev, Wali, Gurusidheshwar, Purushottam, Meera
Format:	Journal Article
Language:	English
Published:	India Wolters Kluwer India Pvt. Ltd 01-03-2019 Medknow Publications and Media Pvt. Ltd Medknow Publications & Media Pvt. Ltd
Subjects:	Adolescent Adult Age Alleles Ataxia Ataxin-3 - genetics Child Female Genetic Testing Haplotypes Humans India Machado-Joseph Disease - genetics Male Mutation Pedigree Population Trinucleotide Repeats Young Adult India Portugal
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Summary:	{Figure 1} The CAG repeat fragment of ATXN3 was amplified by polymerase chain reaction followed by sizing on a ABI 3500XL DNA analyzer (ThermoFisher Scientific Inc., Waltham, MA, USA). {Figure 3} Previous studies have found an inverse correlation of the age of onset of MJD with the size of the expanded CAG repeat size. The influence of environmental factors, in addition to other genetic factors, such as modifier genes, for this variation in the AAO may need to be explored. [...]our study shows CAG repeat expansions in all the affected members of the family at the ATXN3.
ISSN:	0028-3886 1998-4022
DOI:	10.4103/0028-3886.258030