142 research outputs found
Edited by Erik Parens and Adrienne Asch. Georgetown University Press, Washington, DC, 2000, 352 pp., $23.95 (paperback)
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AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission
No full textBACKGROUND:
The presence of AGG interruptions in the CGG repeat locus of the fragile X mental retardation 1 (FMR1) gene decreases the instability of the allele during transmission from parent to child, and decreases the risk of expansion of a premutation allele to a full mutation allele (the predominant cause of fragile X syndrome) during maternal transmission.
METHODS:
To strengthen recent findings on the utility of AGG interruptions in predicting instability or expansion to a full mutation of FMR1 CGG repeat alleles, we assessed the outcomes of 108 intermediate (also named gray zone) and 710 premutation alleles that were transmitted from parent to child, and collected from four international clinical sites. We have used the results to revise our initial model that predicted the risk of a maternal premutation allele expanding to a full mutation during transmission and to test the effect of AGG interruptions on the magnitude of expanded allele instability of intermediate or premutation alleles that did not expand to a full mutation.
RESULTS:
Consistent with previous studies, the number of AGG triplets that interrupts the CGG repeat locus was found to influence the risk of allele instability, including expansion to a full mutation. The total length of the CGG repeat allele remains the best predictor of instability or expansion to a full mutation, but the number of AGG interruptions and, to a much lesser degree, maternal age are also factors when considering the risk of transmission of the premutation allele to a full mutation.
CONCLUSIONS:
Our findings demonstrate that a model with total CGG length, number of AGG interruptions, and maternal age is recommended for calculating the risk of expansion to a full mutation during maternal transmission. Taken together, the results of this study provide relevant information for the genetic counseling of female premutation carriers, and improve the current predictive models which calculate risk of expansion to a full mutation using only total CGG repeat length
Patria, padre y exilio: la estética epifánica de James Joyce en ‘Últimos atardeceres en la Tierra’ de Roberto Bolaño
No full textAlthough Roberto Bolaño’s outwardly irreverent, stridently innovative fictions might not show it, the Chilean author read widely. Beyond the primary, ample influence of Jorge Luis Borges in Bolaño’s literary production, I believe James Joyce to be a clear second. This thesis uncovers the Joycean aesthetic specifically in Bolaño’s short story “Últimos atardeceres en la tierra,” (2001) where I contend that the author succeeds in joining the violence of Latin American fiction with the generative epiphany of the European Joyce, particularly from A Portrait of the Artist as a Young Man (1916). I suggest that Bolaño does so in order to reflect upon, and to some extent, justify his life as an artist in various transnational self-exiles. The paternal character in both Joyce and Bolaño’s work becomes a central figure as a point of biographical reflection for the authors, a representative of homeland and, ultimately, of lifelong national disillusion
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