<it>PTPRC</it> (CD45) is not associated with multiple sclerosis in a large cohort of German patients
<p>Abstract</p> <p>Background</p> <p>Since contradictory results have been reported, we reanalysed the 77C→G transition in exon 4 of the protein-tyrosine phosphatase receptor-type C (<it>PTPRC</it> also known as CD45) in a large cohort of German MS patients...
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| Main Authors: | , , , , |
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| Format: | Book |
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BMC,
2002-05-01T00:00:00Z.
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| Summary: | <p>Abstract</p> <p>Background</p> <p>Since contradictory results have been reported, we reanalysed the 77C→G transition in exon 4 of the protein-tyrosine phosphatase receptor-type C (<it>PTPRC</it> also known as CD45) in a large cohort of German MS patients and controls. Different isoforms of the protein are expressed, depending on alternative splicing of exons 4 (CD45RA), 5 (CD45RB) and 6 (CD45RC) (CD45RO, exons 4-6 spliced out). The 77C→G transition does not change the amino acid sequence, but it is probably part of a motif necessary for splicing leading to the isoform CD45RA. The expression of CD45RA is increased in 77C/G heterozygous individuals. The aim of the study was to clarify the importance of the <it>PTPRC</it> 77C→G transition in our German cohort of MS patients.</p> <p>Methods</p> <p>PCR products of exon 4 were digested using endonuclease <it>Msp</it>I. The resulting restriction fragments of the wildtype C allele are 198 and 62 bp in length. In the G allele an additional restriction site is present yielding fragments of 114 and 84 bp.</p> <p>Results</p> <p>The G allele was identified in 10 of the 347 controls (1.4%) and in 7 of 454 MS patients (0.8%; Table 1). No homozygous individuals were found either in the control or in the patient group. Genetic association between the <it>PTPRC</it> 77C→G transition and MS susceptibility was excluded in the MS cohort. In addition, subgrouping patients according to differences in the clinical course of MS or according to <it>HLA-DRB1*15</it> status did not yield significant differences.</p> <p>Conclusions</p> <p>The 77C→G transition in exon 4 of the <it>PTPRC</it> gene may contribute to MS susceptibility only in very few families, if at all, but it is not relevant for the majority of MS cases, including virtually all German patients.</p> |
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| Item Description: | 10.1186/1471-2350-3-3 1471-2350 |