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Titolo:
SPERM DNA ANALYSIS IN A FRIEDREICH ATAXIA PREMUTATION CARRIER SUGGESTS BOTH MEIOTIC AND MITOTIC EXPANSION IN THE FRDA GENE
Autore:
DELATYCKI MB; PARIS D; GARDNER RJM; FORSHAW K; NICHOLSON GA; NASSIF N; WILLIAMSON R; FORREST SM;
Indirizzi:
ROYAL CHILDRENS HOSP,MURDOCH INST,FLEMINGTON RD PARKVILLE VIC 3052 AUSTRALIA ROYAL CHILDRENS HOSP,MURDOCH INST PARKVILLE VIC 3052 AUSTRALIA UNIV SYDNEY,DEPT MED,MOL MED LAB,CONCORD HOSP SYDNEY NSW 2137 AUSTRALIA
Titolo Testata:
Journal of Medical Genetics
fascicolo: 9, volume: 35, anno: 1998,
pagine: 713 - 716
SICI:
0022-2593(1998)35:9<713:SDAIAF>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
GAA TRIPLET REPEAT; FRAGILE-X-SYNDROME; TRINUCLEOTIDE REPEAT; IRON ACCUMULATION; CLINICAL-FEATURES; FULL MUTATION; FRATAXIN; HOMOLOG; MITOCHONDRIA; INSTABILITY;
Keywords:
FRIEDREICH ATAXIA; TRINUCLEOTIDE REPEATS; PREMUTATION; SPERM;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
27
Recensione:
Indirizzi per estratti:
Citazione:
M.B. Delatycki et al., "SPERM DNA ANALYSIS IN A FRIEDREICH ATAXIA PREMUTATION CARRIER SUGGESTS BOTH MEIOTIC AND MITOTIC EXPANSION IN THE FRDA GENE", Journal of Medical Genetics, 35(9), 1998, pp. 713-716

Abstract

Friedreich ataxia is usually caused by an expansion of a GAA trinucleotide repeat in intron 1 of the FRDA gene. Occasionally, a fully expanded allele has been found to arise from a premutation of 100 or less triplet repeats. We have examined the sperm DNA of a premutation carrier. This man's leucocyte DNA showed one normal allele and one allele ofapproximately 100 repeats. His sperm showed an expanded allele in a tight range centering on a size of approximately 320 trinucleotide repeats. His affected son has repeat sizes of 1040 and 540. These data suggest that expansion occurs in two stages, the first during meiosis followed by a second mitotic expansion. We also show that in all informative carrier father to affected child transmissions, with the notable exception of the premutation carrier, the expansion size decreases.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/04/20 alle ore 02:09:59