Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
RECURRENT AND UNEXPECTED SEGREGATION OF THE FMR1 CGG REPEAT IN A FAMILY WITH FRAGILE-X SYNDROME
Autore:
MORNET E; CHATEAU C; TAILLANDIER A; SIMONBOUY B; SERRE JL;
Indirizzi:
UNIV VERSAILLES ST QUENTIN,CTR ETUD BIOL PRENATALE SESEP,45 AVE ETATSUNIS F-78000 VERSAILLES FRANCE UNIV VERSAILLES ST QUENTIN,LAB CYTOGENET & BIOL MOL HUMAINE F-78000 VERSAILLES FRANCE
Titolo Testata:
Human genetics
fascicolo: 4, volume: 97, anno: 1996,
pagine: 512 - 515
SICI:
0340-6717(1996)97:4<512:RAUSOT>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
FULL MUTATION; MENTAL-RETARDATION; INSTABILITY; DIAGNOSIS; SEQUENCE; CELLS; SITE; GENE; AGE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
26
Recensione:
Indirizzi per estratti:
Citazione:
E. Mornet et al., "RECURRENT AND UNEXPECTED SEGREGATION OF THE FMR1 CGG REPEAT IN A FAMILY WITH FRAGILE-X SYNDROME", Human genetics, 97(4), 1996, pp. 512-515

Abstract

Fragile X syndrome, the most common cause of hereditary mental retardation, results from amplification of a CGG trinucleotide repeat in theFMR1 gene. The transmission of the CGG repeat from premutated individuals to their premutated descendants is usually unstable, showing an increase in the size of the repeat. We report here a family which exhibits recurrent and unexpected transmission of the maternal premutation to three daughters. The first daughter exhibited mosaicism with two pre mutated alleles, one contracted and the other expanded. The second daughter showed a reversion from the maternal premutation to the normalrange, and the third carried an expanded premutated allele associatedwith an expanded paternal allele within the normal range. These variations in the size of the CGG repeat may result from many different mechanisms such as DNA polymerase slippage on the leading or lagging strand during replication, large contractions of repeats on the parental strand during replication, or recombination through unequal crossover between sister chromatids. Our results suggest that the variation of the CGG premutated alleles in this family may be the result of intrinsicinstability associated with a trans-acting factor such as a mismatch repair gene product.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/06/20 alle ore 02:31:22