PMID: 8940270Dec 1, 1996Paper

Familial transmission of the FMR1 CGG repeat

American Journal of Human Genetics
S L NolinW T Brown

Abstract

To better define the nature of FMR1 CGG-repeat expansions, changes in allele sizes for 191 families with fragile X and for 33 families with gray-zone repeats (40-60) were analyzed. Expansion of the fragile X chromosome to the full mutation was seen in 13.4% of offspring from premutation mothers with 56-59 repeats, 20.6% of those with 60-69 repeats, 57.8% of those with 70-79 repeats, 72.9% of those with 80-89 repeats, and 97.3% of those with 90-199 repeats. For premutation fathers, the majority (62%) of their daughters had a larger repeat number, while a few had either a smaller (22%) or the same (16%) repeat number, compared with their fathers' sizes. However, daughters with a smaller repeat number were observed only if their fathers had > or = 80 repeats. Fifteen (39.5%) of 38 such daughters carried a smaller repeat than did their fathers. We observed that a similar repeat number was inherited more often than expected by chance, among the members of a sibship segregating fragile X. This familial clustering, observed in the offspring of both males and females with a premutation, implies there may be an additional factor, independent of parental repeat size, that influences CGG-repeat instability. Instability in gray-zone allele...Continue Reading

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Aug 9, 1996·American Journal of Medical Genetics·W T BrownE C Jenkins

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Citations

Dec 21, 2011·Journal of Community Genetics·Sylvia A Metcalfe
Jun 22, 2002·Current Opinion in Genetics & Development·Randi J Hagerman, Paul J Hagerman
Jul 11, 2002·Journal of the American Academy of Child and Adolescent Psychiatry·Theresa M BastainF Xavier Castellanos
Dec 23, 2011·Annals of Human Genetics·Emmanuel Peprah
Jan 4, 2012·Annals of Human Genetics·Maitane BarasoainIsabel Arrieta

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