A novel duplication in the FMR1 gene: implications for molecular analysis in fragile X syndrome and repeat instability
| Autor: | H von Koskull, Tarja Mononen, V. Juvonen, Raija-Liisa Airaksinen |
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| Rok vydání: | 2007 |
| Předmět: |
Male
Molecular Sequence Data Biology law.invention 03 medical and health sciences Fragile X Mental Retardation Protein Trinucleotide Repeats law Chromosome instability Chromosomal Instability Gene Duplication Gene duplication Genetics Homologous chromosome medicine Humans Repeated sequence Genetics (clinical) Polymerase chain reaction Finland 030304 developmental biology DNA Primers 0303 health sciences Base Sequence 030305 genetics & heredity medicine.disease FMR1 3. Good health Fragile X syndrome Fragile X Syndrome Female Tandem exon duplication |
| Zdroj: | Clinical genetics. 72(6) |
| ISSN: | 0009-9163 |
| Popis: | We have observed a 49 bp tandem duplication adjacent to the triplet repeat of the FMR1 gene and have shown it to occur as a variant in Finland. It affects the primers commonly used in molecular analysis of fragile X syndrome by polymerase chain reaction (PCR) methods. One concern is that females with the full mutation and variant alleles might be missed because of the two PCR products generated by the variant. We suggest that the duplication has arisen by a misalignment of the proximal end of the repeat tract and the non-adjacent GGCGGCGGCGG-sequence located 37 bp upstream and may indicate a mutation hot spot. The discovery of this duplication and the previous observations on deletions associated with full mutations in FMR1 indicate that realignment between the repeat tract and dispersed non-adjacent homologous repetitive sequences may also play a role in repeat instability in fragile X. |
| Databáze: | OpenAIRE |
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