Association between Familial Deficiency of Mannose-Binding Lectin and Mutations in the Corresponding Gene and Promoter Region.

Salimans MM; Bax WA; Stegeman FVan Deuren MBartelink AKVan Dijk H

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Association between Familial Deficiency of Mannose-Binding Lectin and Mutations in the Corresponding Gene and Promoter Region.

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In a recent report, our group presented clinical research data supporting the role of mannose-binding lectin (MBL) deficiency in susceptibility to meningococcal disease (W. A. Bax, O. J. J. Cluysenaer, A. K. M. Bartelink, P. C. Aerts, R. A. B. Ezekowitz, and H. van Dijk, Lancet 354:1094-1095, 1999). This association was reported earlier by Hibberd et al. (M. L. Hibberd, M. Sumiya, J. A. Summerfield, R. Booy, M. Levin, and the Meningococcal Research Group, Lancet 353:1049-1053, 1999) but was not based on family data. Our study included three members of one family who had acquired meningococcal meningitis in early adulthood. The objective of the present study was to investigate whether the genotypes of the MBL gene in this family, analyzed by PCR, correlate with MBL concentrations. We found that genotype variants in the MBL gene and promoter region match the low functional MBL levels (<0.25 microg of equivalents/ml) in the sera of the three patients in this family and that a significant correlation between genotype MBL deficiency and meningococcal disease existed.

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《Clinical and diagnostic laboratory immunology》 |2004年第4期|806-807|共2页
作者
Salimans MM; Bax WA; Stegeman FVan Deuren MBartelink AKVan Dijk H;
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作者单位

Department of Medical Microbiology and Immunology, Meander Medical Centre, Utrechtseweg 160, 3818 ES Amersfoort, The Netherlands. m.salimans@meandermc.nl;

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原文格式 PDF
正文语种英语
中图分类临床医学;
关键词
Genes; Family; deficiency; Joule; Unit of energy; 基因; 家庭;

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Association between Familial Deficiency of Mannose-Binding Lectin and Mutations in the Corresponding Gene and Promoter Region.

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