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Titolo:
POLYMORPHISM ANALYSIS OF THE HUNTINGTIN GENE IN ITALIAN FAMILIES AFFECTED WITH HUNTINGTON DISEASE
Autore:
NOVELLETTO A; PERSICHETTI F; SABBADINI G; MANDICH P; BELLONE E; AJMAR F; SQUITIERI F; CAMPANELLA G; BOZZA A; MACDONALD ME; GUSELLA JF; FRONTALI M;
Indirizzi:
UNIV ROMA TOR VERGATA,DIPARTIMENTO BIOL,VIA E CARNEVALE I-00173 ROME ITALY CNR,IST MED SPERIMENTALE I-00137 ROME ITALY UNIV GENOA,IST BIOL & GENET I-16132 GENOA ITALY UNIV NAPLES,NEUROL CLIN 2 I-80131 NAPLES ITALY UNIV FERRARA,IST CHIM BIOL I-44100 FERRARA ITALY MASSACHUSETTS GEN HOSP,MOLEC NEUROGENET LAB BOSTON MA 02114
Titolo Testata:
Human molecular genetics
fascicolo: 7, volume: 3, anno: 1994,
pagine: 1129 - 1132
SICI:
0964-6906(1994)3:7<1129:PAOTHG>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
AGE-OF-ONSET; TRINUCLEOTIDE REPEAT; REGION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
12
Recensione:
Indirizzi per estratti:
Citazione:
A. Novelletto et al., "POLYMORPHISM ANALYSIS OF THE HUNTINGTIN GENE IN ITALIAN FAMILIES AFFECTED WITH HUNTINGTON DISEASE", Human molecular genetics, 3(7), 1994, pp. 1129-1132

Abstract

Two sources of variation in the huntingtin gene, the length of the COO-rich segment downstream to the (CAG)(n) stretch undergoing expansionin Huntington disease (HD) and the deletion of 3 bp at codon positions 2642 - 2645 (Delta 2642), were analysed on the normal and HD chromosomes of 80 Italian families affected with HD. No instances of meiotic instability of the CCG-rich segment were detected. A strong linkage disequilibrium was found between the HD mutation and alleles at both polymorphic regions: CCG-rich length alleles different from 176 bp are underrepresented while Delta 2642 is overrepresented on HD chromosomes. The presence of such alleles on HD chromosomes does not affect age at onset of the disease. Normal chromosomes displayed a non-random association, shorter (CAG)(n) segments being preferentially followed by longer CCG-rich segments. Finally, the finding, among normal subjects, of carriers of variants on both chromosomes denotes that variation at either of the two polymorphisms does not impair the function of the huntingtin gene product.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/10/20 alle ore 05:21:23