Literature DB >> 2877936

Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy.

M H Hofker, A A Bergen, M I Skraastad, E Bakker, U Francke, B Wieringa, J Bartley, G J van Ommen, P L Pearson.   

Abstract

We have isolated a random cosmid cX5 (DXS148), which maps into a small Xp21 deletion associated with Duchenne muscular dystrophy (DMD), chronic granulomatous disease (CGD), retinitis pigmentosa (RP) and McLeod syndrome, cX5 maps proximally outside several other deletions associated with DMD, glycerol kinase deficiency (GK) and adrenal hypoplasia (AHC). The following order of loci is proposed: centromere-OTC-cX5 (DXS148)-754 (DXS84)-PERT87 (DXS164)/DMD-telomere. A subclone cX5.7, isolated from this cosmid, identifies an MspI RFLP, with a minor allele frequency of 35%. This probe forms an important adjunct to the existing RFLPs for family studies in Duchenne muscular dystrophy.

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Year:  1986        PMID： 2877936     DOI： 10.1007/bf00282548

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  30 in total

1.  Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion.

Authors:  B Wieringa; T Hustinx; J Scheres; W Renier; B ter Haar
Journal:  Clin Genet       Date:  1985-05       Impact factor: 4.438

2.  Development of additional RFLP probes near the locus for Duchenne muscular dystrophy by cosmid cloning of the DXS84 (754) locus.

Authors:  M H Hofker; G J van Ommen; E Bakker; M Burmeister; P L Pearson
Journal:  Hum Genet       Date:  1986-11       Impact factor: 4.132

3.  Separation of chromosomal DNA molecules from yeast by orthogonal-field-alternation gel electrophoresis.

Authors:  G F Carle; M V Olson
Journal:  Nucleic Acids Res       Date:  1984-07-25       Impact factor: 16.971

4.  Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms.

Authors:  D Drayna; K Davies; D Hartley; J L Mandel; G Camerino; R Williamson; R White
Journal:  Proc Natl Acad Sci U S A       Date:  1984-05       Impact factor: 11.205

5.  Does unequal crossing over contribute to the mutation rate in Duchenne muscular dystrophy?

Authors:  R M Winter; M E Pembrey
Journal:  Am J Med Genet       Date:  1982-08

6.  Molecular probes define different regions of the mouse t complex.

Authors:  H S Fox; G R Martin; M F Lyon; B Herrmann; A M Frischauf; H Lehrach; L M Silver
Journal:  Cell       Date:  1985-01       Impact factor: 41.582

7.  Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs.

Authors:  E Bakker; M H Hofker; N Goor; J L Mandel; K Wrogemann; K E Davies; L M Kunkel; H F Willard; W A Fenton; L Sandkuyl
Journal:  Lancet       Date:  1985-03-23       Impact factor: 79.321

8.  Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs.

Authors:  W O Renier; F A Nabben; T W Hustinx; J H Veerkamp; B J Otten; H J Ter Laak; B G Ter Haar; F J Gabreëls
Journal:  Clin Genet       Date:  1983-10       Impact factor: 4.438

9.  Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.

Authors:  U Francke; H D Ochs; B de Martinville; J Giacalone; V Lindgren; C Distèche; R A Pagon; M H Hofker; G J van Ommen; P L Pearson
Journal:  Am J Hum Genet       Date:  1985-03       Impact factor: 11.025

10.  Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.

Authors:  R H Lindenbaum; G Clarke; C Patel; M Moncrieff; J T Hughes
Journal:  J Med Genet       Date:  1979-10       Impact factor: 6.318
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  8 in total

1.  Efficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation.

Authors:  M H Hofker; A A Bergen; M I Skraastad; N J Carpenter; H Veenema; J M Connor; E Bakker; G J van Ommen; P L Pearson
Journal:  Am J Hum Genet       Date:  1987-04       Impact factor: 11.025

2.  Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes.

Authors:  V Ramesh; R Eddy; G A Bruns; V E Shih; T B Shows; J F Gusella
Journal:  Hum Genet       Date:  1987-06       Impact factor: 4.132

3.  Development of additional RFLP probes near the locus for Duchenne muscular dystrophy by cosmid cloning of the DXS84 (754) locus.

Authors:  M H Hofker; G J van Ommen; E Bakker; M Burmeister; P L Pearson
Journal:  Hum Genet       Date:  1986-11       Impact factor: 4.132

4.  Prenatal identification of a girl with a t(X;4)(p21;q35) translocation: molecular characterisation, paternal origin, and association with muscular dystrophy.

Authors:  S E Bodrug; J R Roberson; L Weiss; P N Ray; R G Worton; D L Van Dyke
Journal:  J Med Genet       Date:  1990-07       Impact factor: 6.318

5.  Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dystrophy locus.

Authors:  J A Towbin; D R Wu; J Chamberlain; P D Larsen; W K Seltzer; E R McCabe
Journal:  Hum Genet       Date:  1989-09       Impact factor: 4.132

Review 6.  Diagnosis of genetic disease using recombinant DNA. Supplement.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

7.  Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.

Authors:  U Francke; J F Harper; B T Darras; J M Cowan; E R McCabe; A Kohlschütter; W K Seltzer; F Saito; J Goto; J P Harpey
Journal:  Am J Hum Genet       Date:  1987-03       Impact factor: 11.025

8.  Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia.

Authors:  J Chelly; F Marlhens; B Dutrillaux; G J Van Ommen; M Lambert; B Haioun; G Boissinot; M Fardeau; J C Kaplan
Journal:  Hum Genet       Date:  1988-03       Impact factor: 4.132
  8 in total

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