Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromsome 4q35 recombination events.
Nat Genet
; 4(2): 165-9, 1993 Jun.
Article
en En
| MEDLINE
| ID: mdl-8102297
ABSTRACT
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.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Recombinación Genética
/
Cromosomas Humanos Par 4
/
Distrofias Musculares
Tipo de estudio:
Prognostic_studies
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Nat Genet
Asunto de la revista:
GENETICA MEDICA
Año:
1993
Tipo del documento:
Article