Expansion of an intermediate allele of the FMR1 gene in only two generations
✍ Scribed by A Zuñiga; J Juan; M Mila; A Guerrero
- Book ID
- 110888092
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 68 KB
- Volume
- 68
- Category
- Article
- ISSN
- 0009-9163
No coin nor oath required. For personal study only.
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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 fragile X syndrome is the result of amplification of a CGG trinucleotide repeat in the FMR1 gene and anticipation in this disease is caused by an intergenerational expansion of this repeat. Although regression of a CGG repeat in the premutation range is not uncommon, regression from a full premu