Novel interleukin-1 receptor antagonist exon polymorphisms and their use in allele-specific mRNA assessment

A variable number of tandem repeats (VNTR) polymorphism has been described in intron 2 of the interleukin-1 receptor antagonist gene. Allele 2 of this polymorphism is associated with many chronic inflammatory diseases. Using direct sequencing of polymerase chain reaction products from individuals of...

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Bibliographic Details
Published in:Human genetics 1996-06, Vol.97 (6), p.723-726
Main Authors: CLAY, F. E, TARLOW, J. K, CORK, M. J, COX, A, NICKLIN, M. J. H, DUFF, G. W
Format: Article
Language:English
Subjects:
Alleles
Base Sequence
Biological and medical sciences
Cells, Cultured
Classical genetics, quantitative genetics, hybrids
DNA Mutational Analysis
Exons - genetics
Fundamental and applied biological sciences. Psychology
Genetic Markers
Genetics of eukaryotes. Biological and molecular evolution
Human
Humans
Interleukin 1 Receptor Antagonist Protein
Interleukin-1
Introns - genetics
Keratinocytes
Lichen Sclerosus et Atrophicus - genetics
Linkage Disequilibrium
Minisatellite Repeats
Molecular Sequence Data
Point Mutation
Polymorphism, Genetic
RNA, Messenger - genetics
Sialoglycoproteins - genetics
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Summary:A variable number of tandem repeats (VNTR) polymorphism has been described in intron 2 of the interleukin-1 receptor antagonist gene. Allele 2 of this polymorphism is associated with many chronic inflammatory diseases. Using direct sequencing of polymerase chain reaction products from individuals of known genotype for the VNTR, we have identified four single base change polymorphisms in exons 1ic and 2 and one upstream of exon 1ic, all of which are probably in linkage disequilibrium with the intron 2 VNTR. The exonic polymorphisms do not alter the encoded amino acid sequence. Using the exon 2 polymorphism as a marker for the intron 2 disease-associated allele, we have been able to analyse allele-specific mRNA in heterozygotic keratinocyte cell lines. The disease-associated allele shows no difference from other alleles in this cell type with respect to mRNA accumulation.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF02346180