Literature DB >> 6587566

High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11.

R V Lebo, F Gorin, R J Fletterick, F T Kao, M C Cheung, B D Bruce, Y W Kan.   

Abstract

A rapid gene-mapping system uses a high-resolution, dual-laser sorter to identify genes from separate human chromosomes prepared with a new stain combination. This system was used to sort 21 unique chromosome types onto nitrocellulose filter papers. Several labeled gene probes hybridized to the sorted chromosomal DNA types predicted by their previous chromosome assignments. The skeletal muscle glycogen phosphorylase gene was then mapped to a portion of chromosome 11 by spot blotting normal and translocated chromosomes.

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Year:  1984        PMID: 6587566     DOI: 10.1126/science.6587566

Source DB:  PubMed          Journal:  Science        ISSN: 0036-8075            Impact factor:   47.728


  57 in total

Review 1.  Molecular genetics of phosphorylase kinase: cDNA cloning, chromosomal mapping and isoform structure.

Authors:  M W Kilimann
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  cDNA sequence for human erythrocyte ankyrin.

Authors:  S Lambert; H Yu; J T Prchal; J Lawler; P Ruff; D Speicher; M C Cheung; Y W Kan; J Palek
Journal:  Proc Natl Acad Sci U S A       Date:  1990-03       Impact factor: 11.205

Review 3.  Molecular genetics of McArdle's disease.

Authors:  G Nogales-Gadea; J Arenas; A L Andreu
Journal:  Curr Neurol Neurosci Rep       Date:  2007-01       Impact factor: 5.081

4.  Rare McArdle disease locus polymorphic site on 11q13 contains CpG sequence.

Authors:  R V Lebo; L A Anderson; S DiMauro; E Lynch; P Hwang; R Fletterick
Journal:  Hum Genet       Date:  1990-11       Impact factor: 4.132

5.  Muscle diffusion tensor imaging in glycogen storage disease V (McArdle disease).

Authors:  R Rehmann; L Schlaffke; M Froeling; R A Kley; E Kühnle; M De Marées; J Forsting; M Rohm; M Tegenthoff; T Schmidt-Wilcke; M Vorgerd
Journal:  Eur Radiol       Date:  2018-12-17       Impact factor: 5.315

6.  Optimising human chromosome separation for the production of chromosome-specific DNA libraries by flow sorting.

Authors:  P Harris; E Boyd; M A Ferguson-Smith
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

7.  cDNA cloning of human plasminogen activator-inhibitor from endothelial cells.

Authors:  D Ginsburg; R Zeheb; A Y Yang; U M Rafferty; P A Andreasen; L Nielsen; K Dano; R V Lebo; T D Gelehrter
Journal:  J Clin Invest       Date:  1986-12       Impact factor: 14.808

8.  Mapping parathyroid hormone, beta-globin, insulin, and LDH-A genes within the human chromosome 11 short arm by spot blotting sorted chromosomes.

Authors:  R V Lebo; M C Cheung; B D Bruce; V M Riccardi; F T Kao; Y W Kan
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

9.  Gene localization on sorted chromosomes: definitive evidence on the relative positioning of genes participating in the mouse plasmacytoma-associated typical translocation.

Authors:  Z Wirschubsky; S Ingvarsson; A Carstenssen; F Wiener; G Klein; J Sümegi
Journal:  Proc Natl Acad Sci U S A       Date:  1985-10       Impact factor: 11.205

10.  The potential of family flow karyotyping for the detection of chromosome abnormalities.

Authors:  P Harris; A Cooke; E Boyd; B D Young; M A Ferguson-Smith
Journal:  Hum Genet       Date:  1987-06       Impact factor: 4.132

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