Article Text

PDF

Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene
  1. S Eyre1,
  2. P Roby2,
  3. K Wolstencroft3,
  4. K Spreckley4,
  5. R Aspinwall4,
  6. R Bayoumi5,
  7. L Al-Gazali6,
  8. R Ramesar7,
  9. P Beighton7,
  10. L Gleghorn8,
  11. G Wallis8
  1. 1Arthritis Research Campaign Epidemiology Research Unit, The University of Manchester, Manchester, UK
  2. 2Renovo Ltd, Manchester Incubator Building, Manchester, UK
  3. 3Bioinformatics Unit, The University of Manchester, Manchester, UK
  4. 4Arthritis Research Campaign Epidemiology Research Unit, The University of Manchester, Manchester, UK
  5. 5Department of Biochemistry, Sultan Qaboos University, Muscat, Sultanate of Oman
  6. 6Department of Paediatrics, United Arab Emirates University, Al Ain, United Arab Emirates
  7. 7Department of Human Genetics, University of Cape Town, Cape Town, South Africa
  8. 8The Wellcome Trust Centre for Cell-Matrix Research, The University of Manchester, Manchester, UK
  1. Correspondence to:
 G Wallis
 The Wellcome Trust Centre for Cell-Matrix Research, The University of Manchester, Manchester, UK; gillian.a.wallismanchester.ac.uk

Statistics from Altmetric.com

We have conducted further investigation of the locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1.

On the basis of linkage data, we previously reported a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1 that excluded the aggrecan gene. The map position for aggrecan that we reported differed from available sequence data at that time and hence we concluded that “the inconsistencies between the linkage and sequence data clearly need to be resolved before the targeted analysis of other genes within the linked region can be systematically performed”.1

We have continued our studies of this family and have now identified a genotype error in one of the members of the above family: individual III-1 in the pedigree in fig 2 for SNP AGC1.2 which was given as 1/1 and should be 1/2. This error was found following an alteration of the primers used to sequence the exon that contained the SNP and using a new DNA sample for that individual. The consequence of this misgenotyping is that the map position for aggrecan now falls within the linked region in this family and so remains a candidate gene for this disorder.

Reference

View Abstract

Footnotes

  • Current investigators: L Gleghorn, G Wallis.

  • Competing interests: none declared

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.