Analysis of the CD3 gene region and type 1 diabetes: application of fluorescence-based technology to linkage disequilibrium mapping

Hum Mol Genet. 1995 Feb;4(2):197-202. doi: 10.1093/hmg/4.2.197.

Abstract

The CD3 gene region on chromosome 11q23 has been implicated in susceptibility to type 1 (insulin-dependent) diabetes mellitus. Using semi-automated fluorescence-based technology, we have undertaken association and linkage analysis of a dinucleotide microsatellite in the CD3 delta (CD3D) gene. We have also performed a large case-control analysis of a restriction fragment length polymorphism (RFLP) in the CD3 epsilon (CD3E) gene, 26 kb from CD3D. We found no evidence for the previously reported association between the 8 kb allele of the RFLP and disease in a UK dataset of 403 diabetic patients and 446 nondiabetic controls. Furthermore, the use of the transmission/disequilibrium test (TDT) showed no evidence of linkage or association to type 1 diabetes at either marker locus. We conclude that the CD3 gene region does not contribute significantly to IDDM susceptibility. We have successfully applied semi-automated, fluorescence-based technology to undertake association analysis on the CD3D microsatellite. Moreover, by analysing 94 other dinucleotide repeat markers, we conclude that fluorescence-based methodology can generally be applied to large-scale, semi-automated association studies with most microsatellite markers.

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Biomarkers
  • CD3 Complex / genetics*
  • Chromosome Mapping / methods*
  • Diabetes Mellitus, Type 1 / epidemiology
  • Diabetes Mellitus, Type 1 / genetics*
  • Evaluation Studies as Topic
  • Family Health
  • Female
  • Fluorescence*
  • Haplotypes / genetics
  • Humans
  • Linkage Disequilibrium / genetics*
  • Male
  • Methods
  • Pedigree
  • Polymorphism, Restriction Fragment Length

Substances

  • Biomarkers
  • CD3 Complex