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Fish mapping of 250 cosmid and 26 YAC clones to chromosome 4 with special emphasis on the FSHD region at 4q35. 1995

C Wijmenga, and H G Dauwerse, and G W Padberg, and N Meyer, and J C Murray, and K Mills, and G B van Ommen, and M H Hofker, and R R Frants
MGC-Department of Human Genetics, Leiden University, The Netherlands.

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.

UI MeSH Term Description Entries
D009136 Muscular Dystrophies A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS. Muscular Dystrophy,Myodystrophica,Myodystrophy,Dystrophies, Muscular,Dystrophy, Muscular,Myodystrophicas,Myodystrophies
D002460 Cell Line Established cell cultures that have the potential to propagate indefinitely. Cell Lines,Line, Cell,Lines, Cell
D002874 Chromosome Mapping Any method used for determining the location of and relative distances between genes on a chromosome. Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D002894 Chromosomes, Human, Pair 4 A specific pair of GROUP B CHROMOSOMES of the human chromosome classification. Chromosome 4
D003001 Cloning, Molecular The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells. Molecular Cloning
D003360 Cosmids Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles. Cosmid
D005145 Face The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw. Faces
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006811 Humerus Bone in humans and primates extending from the SHOULDER JOINT to the ELBOW JOINT. Humeri,Greater Tubercle,Humeral Greater Tuberosity,Humeral Lesser Tuberosity,Lesser Tubercle,Olecranon Fossa,Olecranon Fossi,Greater Tubercles,Greater Tuberosities, Humeral,Greater Tuberosity, Humeral,Humeral Greater Tuberosities,Humeral Lesser Tuberosities,Lesser Tubercles,Lesser Tuberosities, Humeral,Lesser Tuberosity, Humeral,Tubercle, Greater,Tubercles, Greater
D012540 Scapula Also called the shoulder blade, it is a flat triangular bone, a pair of which form the back part of the shoulder girdle. Scapulae,Shoulder Blade,Shoulder Blades

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