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Titolo:
THE FRAGILE-X PREMUTATION IN CARRIERS AND ITS EFFECT ON MUTATION SIZEIN OFFSPRING
Autore:
FISCH GS; SNOW K; THIBODEAU SN; CHALIFAUX M; HOLDEN JJA; NELSON DL; HOWARDPEEBLES PN; MADDALENA A;
Indirizzi:
KINGS CTY HOSP,DEPT PSYCHIAT,BOX 32,451 CLARKSON AVE BROOKLYN NY 11203 SUNY HLTH SCI CTR BROOKLYN NY 11203 MAYO CLIN ROCHESTER MN 00000 ONGWANADA RESOURCE CTR KINGSTON ON CANADA BAYLOR COLL MED HOUSTON TX 77030 GENET & IVF INST FAIRFAX VA 22039 VIRGINIA COMMONWEALTH UNIV MED COLL VIRGINIA RICHMOND VA 00000
Titolo Testata:
American journal of human genetics
fascicolo: 5, volume: 56, anno: 1995,
pagine: 1147 - 1155
SICI:
0002-9297(1995)56:5<1147:TFPICA>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
TRINUCLEOTIDE REPEAT AMPLIFICATION; ANDROGEN RECEPTOR GENE; MYOTONIC-DYSTROPHY; HUNTINGTONS-DISEASE; MENTAL-RETARDATION; UNSTABLE DNA; PHENOTYPIC VARIATION; LENGTH VARIATION; FULL MUTATION; CAG REPEAT;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
65
Recensione:
Indirizzi per estratti:
Citazione:
G.S. Fisch et al., "THE FRAGILE-X PREMUTATION IN CARRIERS AND ITS EFFECT ON MUTATION SIZEIN OFFSPRING", American journal of human genetics, 56(5), 1995, pp. 1147-1155

Abstract

The pattern of inheritance in the fragile X (fra(X)) mutation followsa multistage intergenerational process in which the premutation evolves into the full mutation and the characteristic phenotype of the fra(X) syndrome after passing through oogenesis or a postzygotic event. Findings from our multicenter study confirm a strong direct relationshipbetween fra(X) premutation size in the mother and probability of a full mutation in offspring with the mutation. Remarkably, the best-fitting equations are nonlinear asymptotic functions. The close approximation to both the logistic model and Gompertz suggests a process of accumulation of errors in DNA synthesis, as has been proposed previously. We also note that a larger-than-expected number of daughters of transmitting males have premutations that are smaller than their fathers', and that proportion is significantly higher than the proportion of daughters whose premutations are smaller than their mothers'. Intergenerational decreases in premutation size have been reported in other trinucleotide-repeat disorders and also appear to be parent-of-origin specific. Thus, while intergenerational expansion to the full mutation in fra(X) may manifest a postzygotic event, decreases in mutation size may occur during or prior to meiosis.

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Documento generato il 06/04/20 alle ore 08:09:30