Literature DB >> 2606473

Physical fine-mapping of a deletion spanning the Norrie gene.

P J Diergaarde1, B Wieringa, E M Bleeker-Wagemakers, K B Sims, X O Breakefield, H H Ropers.   

Abstract

Norrie disease (ND), atrophia bulborum hereditaria, is caused by a gene defect on the proximal short arm of the X-chromosome. As shown by us and others, microdeletions spanning the DXS7 locus are not uncommon in this disorder, and there is recent evidence that, at least in some of the Norrie deletion patients, the monoamine oxidase (MAO) A and B genes are deleted as well. Molecular hybridization experiments with 19 cloned DNA fragments have enabled us to construct a preliminary long-range restriction map around DXS77, DXS7, MAO-A and MAO-B, and to localize the distal end point of an ND deletion between DXS77 and DXS7.

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Year:  1989        PMID： 2606473     DOI： 10.1007/bf00210665

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


  33 in total

1.  Norrie disease: linkage analysis using a 4.2-kb RFLP detected by a human ornithine aminotransferase cDNA probe.

Authors:  J T Ngo; J B Bateman; V Cortessis; R S Sparkes; T Mohandas; G Inana; M A Spence
Journal:  Genomics       Date:  1989-05       Impact factor: 5.736

2.  An anonymous single copy X-chromosome clone, pTAK8, identifies a frequent RFLP at Xp11-q12(HGM8 no. DXS146).

Authors:  T A Kruse; P Ahrens; H M Albertsen; B Jørgensen; S R Vestergaard
Journal:  Nucleic Acids Res       Date:  1986-02-25       Impact factor: 16.971

3.  pG95 alpha 1-7dIII/RI, a single copy clone at Xp11.4 which recognises a TaqI polymorphism (DXS209).

Authors:  P J Goodfellow; A M Duncan; N E Simpson; B N White
Journal:  Nucleic Acids Res       Date:  1986-11-11       Impact factor: 16.971

4.  cDNA cloning of human liver monoamine oxidase A and B: molecular basis of differences in enzymatic properties.

Authors:  A W Bach; N C Lan; D L Johnson; C W Abell; M E Bembenek; S W Kwan; P H Seeburg; J C Shih
Journal:  Proc Natl Acad Sci U S A       Date:  1988-07       Impact factor: 11.205

5.  Further linkage data on Norrie disease.

Authors:  J D Kivlin; G E Sanborn; E Wright; L Cannon; J Carey
Journal:  Am J Med Genet       Date:  1987-03

6.  Norrie's disease. A congenital progressive oculo-acoustico-cerebral degeneration.

Authors:  M Warburg
Journal:  Acta Ophthalmol (Copenh)       Date:  1966

7.  Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids.

Authors:  P Wieacker; K E Davies; H J Cooke; P L Pearson; R Williamson; S Bhattacharya; J Zimmer; H H Ropers
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

8.  Norrie disease resulting from a gene deletion: clinical features and DNA studies.

Authors:  D Donnai; R C Mountford; A P Read
Journal:  J Med Genet       Date:  1988-02       Impact factor: 6.318

9.  The use of a DNA marker for carrier diagnosis in an X-linked disorder: Norrie's disease.

Authors:  D F Hill; C J Chapman; R J Gardner
Journal:  N Z Med J       Date:  1987-03-25

10.  Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome.

Authors:  L M Bleeker-Wagemakers; U Friedrich; A Gal; T F Wienker; M Warburg; H H Ropers
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132
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  5 in total

1.  Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase.

Authors:  J B Bateman
Journal:  Trans Am Ophthalmol Soc       Date:  1992

2.  Localisation of the gene for Norrie disease to between DXS7 and DXS426 on Xp.

Authors:  S Lindsay; D L Thiselton; J B Bateman; J T Ngo; R S Sparkes; M Coleman; K E Davies; S S Bhattacharya
Journal:  Hum Genet       Date:  1992-01       Impact factor: 4.132

3.  Linkage analysis of Norrie disease with an X-chromosomal ornithine aminotransferase locus.

Authors:  J B Bateman; T L Kojis; R M Cantor; C Heinzmann; J T Ngo; M A Spence; G Inana; J D Kivlin; D Curtis; R S Sparkes
Journal:  Trans Am Ophthalmol Soc       Date:  1993

4.  Human monoamine oxidase A gene determines levels of enzyme activity.

Authors:  G S Hotamisligil; X O Breakefield
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

5.  Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome.

Authors:  W Berger; A Meindl; B de Leeuw; A de Roos; T J van de Pol; T Meitinger; S D van der Velde-Visser; H Achatz; A Geurts van Kessel; F P Cremers
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132
  5 in total

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