Fragile X syndrome (OMIM #300624) affects approximately 1 in 3 000 males and 1 in 5 000 females.
It is caused by the expansion of the number of CGG repeats in the 5’-untranslated region of the Fragile X mental retardation 1 (FMR1) gene with consequent hypermethylation of promotor regions and shutdown of gene expression. There are four categories of allelic forms of CGGn repeat length:
The panel consists of 5 genomic DNA samples:
Samples are presented as 23µg freeze dried genomic DNA in glass ampoules. The collaborative study indicates that these materials are suitable for use in Southern blot, PCR and Abbot PCR tests.
In addition, subsequent to the WHO collaborative study, the following data was obtained by two laboratories using the Asuragen PCR kit:
Assigned CGG repeat numbers (Hawkins et al, 2011)
Amplide X FMR1 PCR Kit results
Female, full mutation
Male, full mutation
Hawkins M et al. (2011) Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome. Eur J Hum Genet. 19:10-7.
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Dr Ross Hawkins – Section HeadDr Ravneet BhullerMr Malcolm Hawkins Dr Leandro Lo CascioMr Noble OssaiDr Pia SanzoneMr Miltiades Stylianou
08/158: WHO International Genetic Reference Panel for Fragile X Syndrome, Human DNAOther genomic reference materials
Further information on ordering genomic reference materials from NIBSC.