Annals of Neurology · 1991 · 60 citations · 42 references
Life SciencesGeneticsNeurologyHuman GeneticsMedical GeneticsNeurogeneticsAutoimmune Disease Susceptibility GenesDisease Susceptibility LociGenetic Susceptibility To AutoimmunityMultiple SclerosisNeurogenetic DisordersT-cell Receptor GeneticsAutosomal Dominant InheritanceIncomplete PenetranceLod Score AnalysisT Cell Receptor Gene VariationT-cell Receptor Beta Chain GeneticsT-cell Receptor Gene LociT-cell Receptor Gene Polymorphism
Restriction fragment length polymorphisms of the T-cell receptor beta-chain gene were studied in DNA obtained from 96 individuals from 14 multiplex families with multiple sclerosis (MS). Thirty-four family members had definite MS and two had probable MS. Five normal family members had abnormal findings on cranial magnetic resonance imaging (MRI) scans. Linkage analysis was performed using the BglII and the KpnI polymorphisms. With penetrance values from 0.1 to 0.7, and altering the scoring of the normal individuals with abnormal findings on MRI scans from "unknown" to "affected," log of the odds scores between -4.59 to -12.76 were found for the autosomal dominant model. For the autosomal recessive model with a penetrance range from 0.1 to 1.0, the LOD scores ranged from -8.20 to -32.98. These findings do not support a direct role of T-cell receptor beta-chain gene in the inheritance of MS.
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