Fish mapping of 250 cosmid and 26 YAC clones to chromosome 4 with special emphasis on the FSHD region at 4q35.
Muscle Nerve Suppl
; 2: S14-8, 1995.
Article
em En
| MEDLINE
| ID: mdl-7739620
ABSTRACT
Facioscapulohumeral muscular dystrophy (FSHD) is located on chromosome 4q35, close to the telomere. FSHD patients carry deletions within a cluster of tandemly repeated DNA. Although expression of a functional FSHD gene will be altered in patients, the sequence itself may be unaffected by this deletion. Hence, the FSHD gene could lie outside of the deleted region. This study employs fluorescent in situ hybridization using chromosome 4-specific cosmid and YAC clones to rapidly saturate chromosome 4 with new markers. Some 250 cosmids and 26 YACs were regionally mapped, of which 5 YACs and 55 cosmids mapped to the distal portion of 4q. Only one of these clones (D4S1454) mapped telomerically to a translocation breakpoint specified by D4S187. Using two-color interphase mapping, the following marker order was obtained Cen-D4S187-D4S1454-HSPCAL2-D4S163-D4S139-+ ++D4F35S1. Absence of additional markers mapping distal to D4F35S1 indicates that the linkage group containing the FSHD gene lies extremely close to the 4q telomere.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 4
/
Cosmídeos
/
Mapeamento Cromossômico
/
Clonagem Molecular
/
Hibridização in Situ Fluorescente
/
Cromossomos Artificiais de Levedura
/
Distrofias Musculares
Limite:
Humans
Idioma:
En
Revista:
Muscle Nerve Suppl
Assunto da revista:
FISIOLOGIA
/
NEUROLOGIA
Ano de publicação:
1995
Tipo de documento:
Article
País de afiliação:
Holanda