Linked Life Data

8162053

Source:http://linkedlifedata.com/resource/pubmed/id/8162053

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1994-5-23
pubmed:abstractText
The polymorphic CAG repeat that is expanded on Huntington disease (HD) chromosomes is flanked by a CCG repeat. Here we show that this CCG tract, previously assumed to be invariant at seven CCG repeats, is also polymorphic. We have identified five CCG alleles from 205 normal chromosomes, with 137 (67%) having alleles of seven repeats, five (2%) with nine repeats, 61 (30%) with 10 repeats, one (0.5%) with 11 repeats and one (0.5%) with 12 repeats. In contrast, analysis of 113 HD chromosomes revealed that the majority (105 chromosomes, 93%) contained seven CCG repeats, while the remaining eight chromosomes (7%) had allele sizes of 10 CCG repeats. Despite evidence that both CAG and CCG are polymorphic on normal chromosomes, we have found that it is only the CAG length that has a significant impact on age of onset. The discovery of larger sized CCG alleles, however, has significant implications for the assessment of CAG repeat length, particularly for persons with estimated CAG size of 36-42 repeats, since an overestimation of CAG length in this range could result in erroneous information being imparted to patients.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0964-6906
pubmed:author
pubmed:issnType
Print
pubmed:volume
3
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
65-7
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing.
pubmed:affiliation
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't