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Titolo:
EFFECT OF TRINUCLEOTIDE REPEAT LENGTH AND PARENTAL SEX ON PHENOTYPIC VARIATION IN SPINOCEREBELLAR ATAXIA-I
Autore:
JODICE C; MALASPINA P; PERSICHETTI F; NOVELLETTO A; SPADARO M; GIUNTI P; MOROCUTTI C; TERRENATO L; HARDING AE; FRONTALI M;
Indirizzi:
UNIV ROMA TOR VERGATA,DEPT BIOL,VIA RIC SCI I-00133 ROME ITALY UNIV ROMA LA SAPIENZA,IST CLIN MALATTIE NERVOSE & MENTALI ROME ITALY CNR,IST MED SPERIMENTALE I-00137 ROME ITALY INST NEUROL LONDON ENGLAND
Titolo Testata:
American journal of human genetics
fascicolo: 6, volume: 54, anno: 1994,
pagine: 959 - 965
SICI:
0002-9297(1994)54:6<959:EOTRLA>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
CEREBELLAR-ATAXIA; LARGE KINDREDS; CAG REPEAT; GENE; LOCUS; MAPS; MECHANISM; TYPE-1; SCA1;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
17
Recensione:
Indirizzi per estratti:
Citazione:
C. Jodice et al., "EFFECT OF TRINUCLEOTIDE REPEAT LENGTH AND PARENTAL SEX ON PHENOTYPIC VARIATION IN SPINOCEREBELLAR ATAXIA-I", American journal of human genetics, 54(6), 1994, pp. 959-965

Abstract

Trinucleotide repeat expansion has been found in 64 subjects from 19 families: 57 patients with SCA1 and 7 subjects predicted, by haplotypeanalysis, to carry the mutation. Comparison with a large set of normal chromosomes shows two distinct distributions, with a much wider variation among expanded chromosomes. The sex of transmitting parent playsa major role in the size distribution of expanded alleles, those with>54 repeats being transmitted by affected fathers exclusively. Our data suggest that alleles with >54 repeats have a reduced chance of survival; these appear to be replaced in each generation by further expansion of alleles in the low- to medium-expanded repeat range, preferentially in male transmissions. Detailed clinical follow-up of a subset ofour patients demonstrates significant relationships between increasing repeat number on expanded chromosomes and earlier age at onset, faster progression of the disease, and earlier age at death.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/09/20 alle ore 10:56:24