The intermediate alleles of the fragile X CGG repeat in patients with mental retardation
- 1 March 1998
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 53 (3) , 200-201
- https://doi.org/10.1111/j.1399-0004.1998.tb02676.x
Abstract
We have analysed the size of the non-expanded FRAXA CGG repeat in 385 male patients affected by mental retardation and in 182 unrelated normal chromosomes as control. The results show that intermediate alleles with more than 40 repeats were not significantly more frequent in patients than in controls. These data do not corroborate previous findings supporting the idea that intermediate alleles may have a deleterious effect on mental retardation.Keywords
This publication has 10 references indexed in Scilit:
- Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothersHuman Molecular Genetics, 1996
- Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndromeHuman Genetics, 1996
- Population studies of the fragile X: a molecular approach.Journal of Medical Genetics, 1993
- Striking Founder Effect for the Fragile X Syndrome in FinlandEuropean Journal of Human Genetics, 1993
- Evidence of founder chromosomes in fragile X syndromeNature Genetics, 1992
- Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus.Proceedings of the National Academy of Sciences, 1992
- Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradoxCell, 1991
- Mapping of DNA Instability at the Fragile X to a Trinucleotide Repeat Sequence P(CCG) nScience, 1991
- Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X SyndromeScience, 1991