Intragenic probe used for diagnostics in fragile X families
β Scribed by Verkerk, Annemieke J. M. H. ;De Vries, Bert B. A. ;Niermeijer, Martinus F. ;Fu, Ying-Hui ;Nelson, David L. ;Warren, Stephen T. ;Majoor-Krakauer, Danielle F. ;Halley, Dicky J. J. ;Oostra, Ben A.
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 377 KB
- Volume
- 43
- Category
- Article
- ISSN
- 0148-7299
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Until recently, fragile X [fra(X)] syndrome was diagnosed by cytogenetic techniques and/or linkage analysis. Investigation of the mutation at the molecular level has shown that amplification of a polymorphic trinucleotide repeat (CGG) is diagnostic of this syndrome. Fu et al. [1991] observed that be
## Abstract A model for the transmission of the CGG repeat sequence associated with the fragileβX dynamic mutation in the FMR1 gene is developed. The model incorporates both haplotype and family effects on the expansion rate of the sequence. The resulting random effects model is fitted to new data,