Ontology highlight
ABSTRACT:
SUBMITTER: Wheeler VC
PROVIDER: S-EPMC2705129 | biostudies-literature | 2007 Nov
REPOSITORIES: biostudies-literature
Wheeler V C VC Persichetti F F McNeil S M SM Mysore J S JS Mysore S S SS MacDonald M E ME Myers R H RH Gusella J F JF Wexler N S NS
Journal of medical genetics 20070727 11
<h4>Background</h4>The Huntington disease (HD) CAG repeat exhibits dramatic instability when transmitted to subsequent generations. The instability of the HD disease allele in male intergenerational transmissions is reflected in the variability of the CAG repeat in DNA from the sperm of male carriers of the HD gene.<h4>Results</h4>In this study, we used a collection of 112 sperm DNAs from male HD gene-positive members of a large Venezuelan cohort to investigate the factors associated with repeat ...[more]