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AB0002 One of susceptibility loci for rheumatoid arthritis is lying inside 14q11.1–11.2 bands suggested by a linkage study
  1. MY Krylov,
  2. SA Finigenova,
  3. MA Moshnina,
  4. EY Samarkina,
  5. VA Maykotkin
  1. Epidemiology and Genetics, Institute of Rheumatology, Moscow, Russia

Abstract

Background Rheumatoid arthritis (RA) is a complex disorder with genetic component that has been suggested by familial aggregation, twin studies, and segregation analysis. Early we show that the type of the inheritance of RA corresponded to a single autosomal two-alleles locus model with incomplete penetrance. This model was used in our study for parametric linkage analysis candidate genes: HLA, T-cell receptors (TCRA, TCRB, TCRD), Col1A2, Col2A1. Lod scores were negative (less than – 2.0) for HLA, TCRB, Col1A2 and Col2A1 loci.

Objectives To identify a new RA susceptibility genes to lying inside 14 q11.1–11.2 chromosomal segment.

Methods We conducted a study in 25 multiplex RA families, 10–15 of them were informative for linkage analysis. The polymorphism of TCRD and TCRA genes, D14S261 and D14S283 microsatellites were investigated by single-strand conformation polymorphism. The TCRD point variation (TCRDpv) was confirmed by restriction fragment length polymorphism.

Results Lod scores (LS) were calculated at standard recombination fractions. The summarised LS for informative families are presented below: D14S261 – LS = +1.50 (RF = 0), TVRD – LS = +1.65 (RF = 0.05), TCRDpv – LS = +0.65 (RF = 0), TCRA – LS = +0.94 (RF = 0), D14S283 – LS = +0.1 (RF = 0.1).

Conclusion These findings show evidence that 14 q11.1–11.2 are bands which may contain one of the RA susceptibility genes.

This is study was supported by Russian Foundation basic Research grant N 99–04–48643.

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