Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromsome 4q35 recombination events.
A gene responsible for facioscapulohumeral muscular dystrophy (FSHD) has been linked to polymorphisms on chromosome 4q35. Multipoint linkage analyses have placed this gene distal to all reported genetic markers on the chromosome. By using as a probe a clone isolated from a cosmid containing sequences related to a homeobox domain, de novo DNA rearrangements were reported in sporadic and familial cases of FSHD. Linkage analysis of an EcoRI polymorphism detected by this clone in twenty-four multigenerational FSHD families revealed recombinants between this marker and the disease with a recombination fraction of 0.05. Two families with apparent germline mosaicism were also identified.
Weiffenbach
B
B
Collaborative Research, Inc. Waltham, Massachusetts 02154.
Dubois
J
J
Storvick
D
D
Tawil
R
R
Jacobsen
S J
SJ
Gilbert
J
J
Wijmenga
C
C
Mendell
J R
JR
Winokur
S
S
Altherr
M R
MR
D015139:Blotting, Southern; D002894:Chromosomes, Human, Pair 4; D003360:Cosmids; D005260:Female; D005799:Genes, Dominant; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D009030:Mosaicism; D009136:Muscular Dystrophies / Q000145:classification / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011995:Recombination, Genetic
D005819:Genetic Markers