Linkage Analysis in Families with Autosomal Recessive Limb-Girdle
Muscular Dystrophy (LGMD) and 6q Probes Flanking the
Dystrophin-Related Sequence
M.R. Passos-Bueno, J. Terwilliger, J. Ott, M. Vainzof,D.R. Love,
K.E. Davies, M. Zatz
American Journal of Medical Genetics , 38(1), 140--146 (1991 Jan)
Abstract
The clinical similarity with the X-linked muscular dystrophies and
the uniqueness of the homology between the DMD-like and the 1.8 kb
sequences at the carboxyterminal domain of the dystrophin gene led
to the suggestion that this 6q sequence might be a strong candidate
for one of the autosomal recessive muscular dystrophies. Thus, we
tested, through linkage analysis, if 6q probes flanking the
dystrophin-homologous sequence are linked to the gene responsible
for limb-girdle dystrophy (LGMD). A total of 226 individuals (57
patients and 169 unaffected relatives) from 19 large unrelated
Brazilian families was studied. Results of two-point analysis
excluded linkage with MYB (6q22-23) and ESR (6q24-q27) at 8 = 0.10
and with TCP1 (6q25-q27) at 0 = 0.05, indicating that the LGMD gene
is not in the 6q23-q27 region. Therefore, the dystrophin-homologue
sequence is not the gene responsible for LGMD.
