Literature DB >> 8314565

Physical localisation of the chromosomal marker D13S31 places the Wilson disease locus at the junction of bands q14.3 and q21.1 of chromosome 13.

R F Kooy1, A Y Van der Veen, E Verlind, R H Houwen, H Scheffer, C H Buys.   

Abstract

D13S31 is the marker closest to the Wilson disease locus according to genetic analysis. Its physical localisation was refined by fluorescent in situ hybridisation to the junction to chromosomal bands 13q14.3 and 13q21.1. Using polymerase chain reaction analysis, D13S31 and D13S59 (the closest proximal and distal marker, respectively) were found to be located on the end of the der(13) consisting of 13pter-13q14.3: in the somatic cell hybrid ICD, and to be absent from the cell lines WC-H38B3B6 containing a del(13) (13pter-q13::13q21.1-qter) and KSF39 containing a del(13) (13pter-q14.1:).

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Year:  1993        PMID: 8314565     DOI: 10.1007/bf00217780

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


  14 in total

1.  Predictive testing for Wilson's disease using tightly linked and flanking DNA markers.

Authors:  L A Farrer; A M Bowcock; J M Hebert; B Bonné-Tamir; I Sternlieb; M Giagheddu; P St George-Hyslop; M Frydman; J Lössner; L Demelia
Journal:  Neurology       Date:  1991-07       Impact factor: 9.910

2.  Assignments of polymorphic loci on chromosome 13 refined by in situ hybridization.

Authors:  C M Morris; P H Fitzgerald
Journal:  Genomics       Date:  1992-04       Impact factor: 5.736

3.  A contiguous linkage map of chromosome 13q with 39 distinct loci separated on average by 5.1 centimorgans.

Authors:  A M Bowcock; L A Farrer; J M Hebert; A E Bale; L Cavalli-Sforza
Journal:  Genomics       Date:  1991-11       Impact factor: 5.736

4.  A somatic cell hybrid mapping panel for regional assignment of human chromosome 13 DNA sequences.

Authors:  J K Cowell; C D Mitchell
Journal:  Cytogenet Cell Genet       Date:  1989

5.  Close linkage of the Wilson's disease locus to D13S12 in the chromosomal region 13q21 and not to ESD in 13q14.

Authors:  R H Houwen; H Scheffer; G J te Meerman; P van der Vlies; C H Buys
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

6.  Human collagen genes encoding basement membrane alpha 1 (IV) and alpha 2 (IV) chains map to the distal long arm of chromosome 13.

Authors:  C A Griffin; B S Emanuel; J R Hansen; W K Cavenee; J C Myers
Journal:  Proc Natl Acad Sci U S A       Date:  1987-01       Impact factor: 11.205

7.  Eight closely linked loci place the Wilson disease locus within 13q14-q21.

Authors:  A M Bowcock; L A Farrer; J M Hebert; M Agger; I Sternlieb; I H Scheinberg; C H Buys; H Scheffer; M Frydman; T Chajek-Saul
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

8.  Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.

Authors:  M Frydman; B Bonné-Tamir; L A Farrer; P M Conneally; A Magazanik; S Ashbel; Z Goldwitch
Journal:  Proc Natl Acad Sci U S A       Date:  1985-03       Impact factor: 11.205

9.  Identification of crossovers in Wilson disease families as reference points for a genetic localization of the gene.

Authors:  H Scheffer; R H Houwen; G J Te Meerman; J Loessner; B Bachmann; E Kunert; E Verlind; C H Buys
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

10.  Isolation of human chromosome 13-specific DNA sequences cloned from flow sorted chromosomes and potentially linked to the retinoblastoma locus.

Authors:  M Lalande; T P Dryja; R R Schreck; J Shipley; A Flint; S A Latt
Journal:  Cancer Genet Cytogenet       Date:  1984-12
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  4 in total

1.  Molecular biology and the diagnosis and treatment of liver diseases.

Authors:  Howard J Worman; Lin Feng; Naoto Mamiya
Journal:  World J Gastroenterol       Date:  1998-06       Impact factor: 5.742

Review 2.  Chorea and related disorders.

Authors:  R Bhidayasiri; D D Truong
Journal:  Postgrad Med J       Date:  2004-09       Impact factor: 2.401

3.  High-resolution analysis of DNA replication domain organization across an R/G-band boundary.

Authors:  S Strehl; J M LaSalle; M Lalande
Journal:  Mol Cell Biol       Date:  1997-10       Impact factor: 4.272

4.  Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.

Authors:  A Figus; A Angius; G Loudianos; C Bertini; V Dessi; A Loi; M Deiana; M Lovicu; N Olla; G Sole
Journal:  Am J Hum Genet       Date:  1995-12       Impact factor: 11.025

  4 in total

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