ABSTRACT
FSHD Facioscapulohumeral Muscular Dystrophy: Clinical Medicine and Molecular Cell Biology, edited by Meena Upadhyaya and David N.Cooper. © 2004 Garland/BIOS Scientific Publishers Limited, Abingdon.
7.1 Introduction
After the FSHD locus had been mapped to the subtelomeric region of the long arm of chromosome 4 (Wijmenga et al., 1990), the isolation of probe p13-E11 from a cosmid containing homeodomain sequences was the next crucial step in the molecular dissection of the genetic background. Compared to other probes, p13-E11 was almost single copy on Southern blots and highly useful for diagnostic purposes because it usually detected an EcoRI fragment shorter than approximately 40 kb in patients (Wijmenga et al., 1992). However, these gels contained several larger fragments, insufficiently resolved by conventional agarose electrophoresis. The parental cosmid clone showed crosshybridization to several other chromosomes on FISH analysis, in particular to subtelomeric (and pericentromeric) regions (Hewitt et al., 1994), suggesting a complex molecular and evolutionary past.
