Fish mapping of 250 cosmid and 26 YAC clones to chromosome 4 with special emphasis on the FSHD region at 4q35

C Wijmenga; H G Dauwerse; G W Padberg; N Meyer; J C Murray; K Mills; G B van Ommen; M H Hofker; R R Frants

doi:10.1002/mus.880181305

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Journal article

Fish mapping of 250 cosmid and 26 YAC clones to chromosome 4 with special emphasis on the FSHD region at 4q35

C Wijmenga, H G Dauwerse, G W Padberg, N Meyer, J C Murray, K Mills, G B van Ommen, M H Hofker and R R Frants

Muscle & nerve, Vol.18(S13), pp.S14-S18

1995

DOI: 10.1002/mus.880181305

PMID: 7739620

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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.

Cell Line

Cosmids

Chromosomes, Artificial, Yeast

Chromosome Mapping - methods

Humans

Cloning, Molecular

In Situ Hybridization, Fluorescence

Scapula

Face

Humerus

Muscular Dystrophies - genetics

Chromosomes, Human, Pair 4

Details

Title: Subtitle: Fish mapping of 250 cosmid and 26 YAC clones to chromosome 4 with special emphasis on the FSHD region at 4q35
Creators: C Wijmenga - MGC-Department of Human Genetics, Leiden University, The Netherlands
H G Dauwerse
G W Padberg
N Meyer
J C Murray
K Mills
G B van Ommen
M H Hofker
R R Frants
Resource Type: Journal article
Publication Details: Muscle & nerve, Vol.18(S13), pp.S14-S18
DOI: 10.1002/mus.880181305
PMID: 7739620
NLM abbreviation: Muscle Nerve
ISSN: 0148-639X
eISSN: 1097-4598
Publisher: United States
Language: English
Date published: 1995
Academic Unit: Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
Record Identifier: 9984025328402771

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