Patent ID: 6136546
Filing Date: 2000-10-24
Classification: G01N

Abstract:
A method for aiding in the diagnosis of congenital muscular dystrophy associated with in-frame deletion in the laminin-2 .alpha.2 polypeptide chain in an individual human, comprising the steps of:a) providing an experimental muscle tissue sample from the individual, treated if necessary to render components available for antibody binding;b) separating the components of the sample on the basis of molecular weight;c) transferring protein components separated in step b) to a solid support while maintaining the relative positions established in separation step b);d) staining the protein components attached to the solid support of step c) with an affinity reagent which is known to bind to a C-terminal domain of the laminin-2 .alpha.2 polypeptide chain; ande) identifying an individual afflicted with congenital muscular dystrophy associated with in-frame deletion in the laminin-2 .alpha.2 polypeptide chain on the basis of:i) positive staining in step d); andii) reduced molecular weight of the laminin-2 .alpha.2 polypeptide chain relative to the wild-type laminin-2 .alpha.2 polypeptide chain.