To investigate the origin of fragile X mutations in the Argentine population, we studied the alleles and haplotypes at DXS548 and FRAXAC1 loci of 42 unrelated fragile X chromosomes and 168 normal ones. Four haplotypes presented in linkage disequilibrium and accounted for 76.2% of fragile X chromosom
Fragile X founder effects and new mutations in Finland
✍ Scribed by Zhong, Nan; Kajanoja, Eliisa; Smits, Bram; Pietrofesa, James; Curley, Dennis; Wang, Dauwen; Ju, Weina; Nolin, Sally; Dobkin, Carl; Ryynänen, Markku; Brown, W. Ted
- Book ID
- 102645679
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 60 KB
- Volume
- 64
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
The apparent associations between fragile X mutations and nearby microsatellites may reflect both founder effects and microsatellite instability. To gain further insight into their relative contributions, we typed a sample of 56 unrelated control and 37 fragile X chromosomes from an eastern Finnish population for FMRl CGG repeat lengths, AGG interspersion patterns, DXS548, FRAXACl, FRAXE and a new polymorphic locus, A h -L . In the controls, the most common FMRl allele was 30 repeats with a range of 20 to 47 and a calculated heterozygosity of 88%.
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Microsatellite markers RS46 (DXS548) and FRAXAC2 flanking the fragile X mutation, an expansion of a (CGG)n repeat within the FMR-1 gene, were typed in 60 unrelated northern and eastern Finnish fragile X families and in a control population from the same geographical region. A significant difference
For many years, the high prevalence of the fragile X syndrome was thought to be caused by a high mutation frequency. The recent isolation of the FMR1 gene and identification of the most prevalent mutation enable a more precise study of the fragile X mutation. As the vast majority of fragile X patien