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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.

Type

Journal article

Journal

Hum Mol Genet

Publication Date

02/1995

Volume

4

Pages

197 - 202

Keywords

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