Genetic polymorphism of the mannose-binding protein gene in children with sickle cell disease: identification of three new variant alleles and relationship to infections
| Autor: | Hassan Nabeel-Jassim, M Guilloud-Bataille, Chang Yong Lu, Claudine Lapoumeroulie, Jacques Elion, Claude Besmond, Robert Girot, Dominique Dabit, Josué Feingold, M. G. Neonato, Rajagopal Krishnamoorthy |
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| Rok vydání: | 1999 |
| Předmět: |
Male
Adolescent Genotype Cell Anemia Sickle Cell Disease Biology Genetics medicine Humans Allele Child Promoter Regions Genetic Gene Alleles Genetics (clinical) Mannan-binding lectin Polymorphism Genetic Innate immune system Models Genetic Chromosomes Human Pair 10 Homozygote Genetic Variation Exons medicine.disease Collectins medicine.anatomical_structure Child Preschool Immunology Female Carrier Proteins Meningitis Polymorphism Restriction Fragment Length |
| Zdroj: | European Journal of Human Genetics. 7:679-686 |
| ISSN: | 1476-5438 1018-4813 |
| DOI: | 10.1038/sj.ejhg.5200360 |
| Popis: | Mannose-binding protein (MBP) is a serum lectin that participates in the innate immune response. MBP deficiency may constitute a risk factor in the development of infections. Three MBP structural variants have been identified with a dominant effect on MBP serum concentration. Similarly, polymorphisms in the promoter of the corresponding gene (HSMBP1B) have been related to variations of MBP concentration in serum. Children with sickle cell disease (SCD) have an increased susceptibility to infections with encapsulated organisms resulting in meningitis, septicaemia, and osteomyelitis. We have investigated the HSMBP1B genotype in 242 children with SCD living in Paris. Apart from the known variant alleles, we identified three novel ones and report their distribution in our sample population. In addition, we found rather unexpectedly an increased frequency of the variant alleles in patients who had not suffered severe infections. |
| Databáze: | OpenAIRE |
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