Expansion to full mutation of a FMR1 intermediate allele over two generations
β Scribed by Terracciano, Alessandra; Pomponi, Maria Grazia; Marino, Grazia Maria Elisabetta; Chiurazzi, Pietro; Rinaldi, Maria Michela; Dobosz, Marina; Neri, Giovanni
- Book ID
- 110025562
- Publisher
- Nature Publishing Group
- Year
- 2004
- Tongue
- English
- Weight
- 79 KB
- Volume
- 12
- Category
- Article
- ISSN
- 1018-4813
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W e report on a family segregating a FMR-I allele within the "grey zone" of triplet repeat length (n = 51). The allele showed a 1-unit increment when transmitted through a female meiosis and a 1-unit increment when transmitted through a male of the next generation. At the following generation, a pre
The main mutation in fragile X patients is the expansion of the CGG repeat in the first exon of the FMR1 gene, associated with hypermethylation of the proximal CpG island. An increasing number of atypical cases have been reported showing the coexistence of full mutation and premutated or normalsized