SEQUENCE-ANALYSIS OF THE CCG POLYMORPHIC REGION ADJACENT TO THE CAG TRIPLET REPEAT OF THE HD GENE IN NORMAL AND HD CHROMOSOMES

Authors
PECHEUX C MOURET JF DURR A AGID Y FEINGOLD J BRICE A DODE C KAPLAN JC
Citation
C. Pecheux et al., SEQUENCE-ANALYSIS OF THE CCG POLYMORPHIC REGION ADJACENT TO THE CAG TRIPLET REPEAT OF THE HD GENE IN NORMAL AND HD CHROMOSOMES, Journal of Medical Genetics, 32(5), 1995, pp. 399-400
Citations number
6
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
32
Issue
5
Year of publication
1995
Pages
399 - 400
Database
ISI
SICI code
0022-2593(1995)32:5<399:SOTCPR>2.0.ZU;2-8
Abstract
The CAG expansion responsible for Huntingon's disease (HD) is followed by an adjacent polymorphic CCG repeat region which may interfere with a PCR based diagnosis. We have sequenced this region in 52 unrelated HD patients, from both normal and HD chromosomes. Fifty percent of the normal alleles were (CCG)(7)(CCT)(2), 48% (CCG)(10)(CCT)(2), and 2% ( CCG)(7)(CCT)(3). In contrast (CCG)(7)(CCT)(2) was found in 85% of the HD alleles which represents significant linkage disequilibrium with th e HD mutation.