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Improving diagnosis of Huntington's disease by analysis of an intragenic trinucleotide repeat expansion
Author(s) -
Beilby John,
Chin Christine Y,
Porter Ian,
Walpole Ian R,
Goldblatt Jack
Publication year - 1994
Publication title -
medical journal of australia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 131
eISSN - 1326-5377
pISSN - 0025-729X
DOI - 10.5694/j.1326-5377.1994.tb127486.x
Subject(s) - trinucleotide repeat expansion , huntingtin , huntington's disease , genetics , predictive testing , biology , polymerase chain reaction , allele , gene , disease , population , medicine , genetic testing , environmental health , mutant
Direct testing for the CAG repeat sequence in the Huntington's disease gene is quick, accurate and more acceptable to individuals at risk thank previous methods Objective To develop an accurate presymptomatic test for Huntington's disease. Method An improved polymerase chain reaction method was used to investigate the pattern of expansions of a CAG repeat sequence located in the 5' region of a gene recently found to produce the protein called Huntingtin. We documented the range of trinucleotide repeat expansions in the responsible gene in 82 affected individuals compared with SO control subjects from a Western Australian population. Results The number of expanded repeats ranged from 40 to 73 in affected individuals and from 13 to 38 in normal controls. Conclusion Polymerase chain reaction analysis of a CAG repeat sequence in the Huntington's disease gene clearly differentiated between normal and mutated alleles, providing an accurate diagnostic test for the disorder in individuals at risk. This predictive test has met with greater acceptance and demand than methods using family based linkage studies.