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Polymorphic analysis of the high-affinity tumor necrosis factor receptor 2
P Pantelidis1, P A Lympany, P J Foley
1Department of Occupational and Environmental Medicine, Imperial College of Science, Technology and Medicine, National Heart and Lung Institute, London, United Kingdom.
Tissue Antigens
|February 16, 2000
Summary
This study identified four biallelic polymorphisms in the tumor necrosis factor receptor 2 (TNF-RII) gene, including one in exon 6 causing an amino acid change. Allele frequencies were determined in UK Caucasians, revealing significant associations between specific polymorphisms.
Area of Science:
- Genetics
- Molecular Biology
- Immunology
Background:
- The tumor necrosis factor receptor 2 (TNF-RII) gene, located on chromosome 1p362, comprises 10 exons and 9 introns.
- Previous sequence analysis suggested the presence of biallelic polymorphisms in exons 4, 6, 9, and 10 of the TNF-RII gene.
Purpose of the Study:
- To identify and characterize biallelic polymorphisms within the TNF-RII gene using polymerase chain reaction methodology.
- To determine the allele frequencies of identified TNF-RII polymorphisms in a UK Caucasian population.
- To investigate potential associations between specific TNF-RII polymorphisms.
Main Methods:
- Utilized polymerase chain reaction with sequence-specific primers (PCR-SSP) incorporating 3' end mismatches for polymorphism identification.
- Sequenced specific exons of the TNF-RII gene to confirm polymorphism presence and nucleotide positions.
- Direct counting and calculation of allele and gene frequencies in 192 unrelated UK Caucasian individuals.
Main Results:
- Confirmed a single biallelic polymorphism in exon 6 (T/G at nucleotide 676), resulting in an amino acid change.
- Identified three biallelic polymorphisms in exon 10 (1663 A/G, 1668 T/G, 1690 C/T).
- Determined allele frequencies: 676-T (0.77), 1663-G (0.51), 1668-T (0.95), 1690-T (0.64). Found significant associations between polymorphisms at positions 1663, 1668, and 1690.
Conclusions:
- Established the presence and frequencies of specific TNF-RII gene polymorphisms in a UK Caucasian cohort.
- Demonstrated significant linkage disequilibrium between polymorphisms in the 3' untranslated region of the TNF-RII gene.
- These findings provide a basis for further investigation into the functional and clinical relevance of TNF-RII gene variations.