Further exclusion of FSHD1B from the telomeric region of 10q.
The localization of the gene for the majority of cases of facioscapulohumeral muscular dystrophy is established as 4q35-qter (FSHD1A), although locus heterogeneity has been demonstrated with a minority of families unlinked to 4q. In FSHD1A, the disease is associated with a deletion of 3.3 kb repeats from a tandem repeat located near the as-yet-unidentified gene. This repeat cross-hybridizes with a telomeric region on 10q, making this cross-hybridizing region a feasible candidate gene for FSHD1B. We have tested the most telomeric marker on 10q (sAVA4) and excluded approximately 17 cM on either side of this marker as harboring the FSHD1B gene.
Speer
M C
MC
Duke University Medical Center, Department of Medicine, Durham, NC 27710, USA. marcy@linkage.mc.duke.edu
Pericak-Vance
M A
MA
Stajich
J M
JM
Sarrica
J
J
Jordan
M
M
Roses
A D
AD
Vance
J M
JM
Gilbert
J R
JR
D000483:Alleles; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics*; D010375:Pedigree; D016615:Telomere / Q000235:genetics*
D005819:Genetic Markers