Literature DB >> 7874124

Isolation of CA dinucleotide repeats close to D6S105; linkage disequilibrium with haemochromatosis.

C Stone1, J J Pointon, E C Jazwinska, J W Halliday, L W Powell, K J Robson, A P Monaco, D J Weatherall.   

Abstract

The gene for hereditary haemochromatosis (HC) is linked to HLA-A and D6S105 on chromosome 6p. Both markers have also been reported to display linkage disequilibrium with the disease. However, their physical localization relative to one another has not been established. We demonstrate by fluorescent in situ hybridisation that D6S105 lies at least 1-2 Mb telomeric of HLA-A. The haemochromatosis critical region extending from proximal of HLA-A to distal of D6S105 is therefore large. To improve the genetic resolution in this region more highly polymorphic markers are required. We have therefore isolated three novel CA dinucleotide repeats close to D6S105. A linkage disequilibrium study, with two of these microsatellites, in HC patients and controls lends support to the conclusion that D6S105 is a close marker to the haemochromatosis gene.

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Year:  1994        PMID： 7874124

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


  8 in total

1.  International workshop on molecular genetics of haemochromatosis, held at Villa Feltrinelli, Gargnano (Bs), Italy, 25 September 1994.

Authors:  M Worwood; P Gasparini; C Camaschella
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

2.  Allelic association under map error and recombinational heterogeneity: a tale of two sites.

Authors:  C Lonjou; A Collins; R S Ajioka; L B Jorde; J P Kushner; N E Morton
Journal:  Proc Natl Acad Sci U S A       Date:  1998-09-15       Impact factor: 11.205

3.  Rapid mapping of markers applying vectorette technology to YAC fragmentation allows easy assembly of a high-density STS bacterial clone contig spanning the markers D6S1260-D6S1918.

Authors:  J D Shearman; J J Pointon; A T Merryweather-Clarke; C Stone; S W Horsley; L Kearney; W M Rosenberg; K J Robson
Journal:  Mamm Genome       Date:  1998-03       Impact factor: 2.957

4.  Haemochromatosis: a gene at last?

Authors:  K J Robson; J D Shearman; A T Merryweather-Clarke; J J Pointon; W M Rosenberg; A P Walker; J S Dooley; A Bomford; R Raha-Chowdhury; M Worwood
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

5.  Linkage disequilibrium and extended haplotypes in the HLA-A to D6S105 region: implications for mapping the hemochromatosis gene (HFE).

Authors:  G Gandon; A M Jouanolle; B Chauvel; V Mauvieux; A le Treut; J Feingold; J Y Le Gall; V David; J Yaouanq
Journal:  Hum Genet       Date:  1996-01       Impact factor: 4.132

6.  Allelic associations and homozygosity at loci from HLA-B to D6S299 in genetic haemochromatosis.

Authors:  R Raha-Chowdhury; D J Bowen; A K Burnett; M Worwood
Journal:  J Med Genet       Date:  1995-06       Impact factor: 6.318

7.  Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.

Authors:  M Carella; L D'Ambrosio; A Totaro; A Grifa; M A Valentino; A Piperno; D Girelli; A Roetto; B Franco; P Gasparini; C Camaschella
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

8.  Allelic association of microsatellites of 6p in Italian hemochromatosis patients.

Authors:  C Camaschella; A Roetto; P Gasparini; A Piperno; P Fortina; S Surrey; E Rappaport
Journal:  Hum Genet       Date:  1996-04       Impact factor: 4.132
  8 in total

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