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- W1970086103 abstract "Facioscapulohumeral muscular dystrophy (FSHD) is characterized by complex genetics linked to DNA rearrangements in a polymorphic genomic region of tandemly repeated D4Z4 segments. A panel of FSHD biomarkers including contracted D4Z4 array repeat combined with the 4qA(159/161/168)PAS haplotype has been proposed as molecular signature for defining alleles causally related to FSHD. The aim of the present study was to develop a simple approach for FSHD molecular testing in order to extend studies related to the applicability of FSHD molecular signature in Greek population.The method comprises: (i) visual genotyping of the common 4qA and 10qA subtelomeric haplotypes by a multiplex assay in a dipstick format. (ii) Detection of 4qA161 haplotype in D4Z4 contracted alleles by tri-primer PCR. (iii) Detection of PAS SNP in PLAM region and G>C SNP in the first proximal D4Z4 unit by tri-primer PCR. The method was evaluated by analysing DNA from monoallelic sources representing common 4q and 10q haplotypes, samples from 3 FSHD families, 36 unrelated probands and 38 control individuals of Greek origin.The proposed method could be a very useful tool for FSHD testing making it more accessible to clinical diagnostic laboratories and the wider FSHD community." @default.
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- W1970086103 date "2014-02-01" @default.
- W1970086103 modified "2023-10-17" @default.
- W1970086103 title "A simplified approach for FSHD molecular testing" @default.
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- W1970086103 doi "https://doi.org/10.1016/j.cca.2013.11.032" @default.
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