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Titolo:
EXAMINATION OF FACTORS THAT INFLUENCE THE EXPANSION OF THE FRAGILE-X MUTATION IN A SAMPLE OF CONCEPTUSES FROM KNOWN CARRIER FEMALES
Autore:
SHERMAN SL; MEADOWS KL; ASHLEY AE;
Indirizzi:
EMORY UNIV,DEPT MOL & MED GENET,1462 CLIFTON RD ATLANTA GA 30322
Titolo Testata:
American journal of medical genetics
fascicolo: 2, volume: 64, anno: 1996,
pagine: 256 - 260
SICI:
0148-7299(1996)64:2<256:EOFTIT>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
FULL MUTATION; TRINUCLEOTIDE REPEAT; FETAL TISSUES; FMR1 GENE; INSTABILITY; SIZE; PREMUTATION; POPULATION; SEQUENCE; ALLELES;
Keywords:
FRAGILE X; REPEAT SEQUENCE DISORDER; EXPANSION; MUTATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
21
Recensione:
Indirizzi per estratti:
Citazione:
S.L. Sherman et al., "EXAMINATION OF FACTORS THAT INFLUENCE THE EXPANSION OF THE FRAGILE-X MUTATION IN A SAMPLE OF CONCEPTUSES FROM KNOWN CARRIER FEMALES", American journal of medical genetics, 64(2), 1996, pp. 256-260

Abstract

The Collaborative Prospective Fragile X Study was established to collect information on the pregnancy outcome of women known to be carriersof the fragile X syndrome. The prospective design of this study allows collection of ascertainment-free data and, thereby, avoids biases caused by sampling problems encountered in retrospective family studies. The results of 337 submitted cases are summarized. These data show that the segregation of the fragile X mutation is normal and the sex ratio of conceptuses is as expected for a prenatal sample. There is no excess of dizygotic twinning among the pre- or full mutation carrier females. Data are limited at this time but provide a suggestion that the risk of expansion to the full mutation may be correlated with maternalage and to the parental origin of premutation of carrier women. More data are needed to confirm these suggested trends. The prospective data base provides a valuable resource to continue to examine factors in an unbiased fashion. (C) 1996 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/03/20 alle ore 10:07:41