REFINED GENETIC LOCATION OF THE CHROMOSOME 2P-LINKED PROGRESSIVE MUSCULAR-DYSTROPHY GENE

Autosomal recessive progressive muscular dystrophies may be clinically subclassified into limb-girdle muscular dystrophy (LGMD) and distal m yopathy (DM), each clinical form being genetically heterogeneous. Gene s for LGMD type 2B and Miyoshi myopathy (a form of DM) have been mappe d to essentially the same region on chromosome 2p. We described recent ly a large inbred family with autosomal recessive muscular dystrophy i n which the LGMD and the DM phenotypes were manifested in separate aff ected members, and we assigned the gene for this condition to the same locus as in LGMD2B and Miyoshi myopathy. Here we report extended hapl otypes in this family generated from 15 markers located at the region of interest on chromosome 2p13. Key recombinants allowed us to reduce further the candidate region for this polymorphic condition and define d the loci D2S327 and D2S2111 as the most likely boundaries of the mut ant gene. (C) 1997 Academic Press.