Cost-effective genotyping of human MBL2 gene mutations using multiplex PCR
Language English Country Netherlands Media print-electronic
Document type Journal Article, Research Support, Non-U.S. Gov't
PubMed
15627619
DOI
10.1016/j.jim.2004.10.007
PII: S0022-1759(04)00373-4
Knihovny.cz E-resources
- MeSH
- Cost-Benefit Analysis MeSH
- Phenotype MeSH
- Genotype * MeSH
- Mannose-Binding Lectin analogs & derivatives genetics MeSH
- Humans MeSH
- Molecular Sequence Data MeSH
- Mutation MeSH
- Polymerase Chain Reaction economics methods MeSH
- Promoter Regions, Genetic MeSH
- Amino Acid Sequence MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Geographicals
- Czechoslovakia MeSH
- Names of Substances
- Mannose-Binding Lectin MeSH
- MBL2 protein, human MeSH Browser
Mannose-binding lectin (MBL) deficiency is associated with increased susceptibility to various infections and autoimmune disorders. It is caused by certain polymorphisms in the MBL2 gene promoter and mutations in the coding region of the gene. In this report, we present a novel, rapid, efficient and cost-effective method of two multiplex polymerase chain reactions (PCRs) for the assessment of three structural point mutations within exon 1 at codons 52, 54 and 57. Three additional PCR reactions for the detection of promoter polymorphisms at positions -550 and -221 were performed. MBL2 haplotypes in 359 individuals of the general Czech population were detected using this approach. The rare LYD haplotype was found in 1.1% of all alleles.
References provided by Crossref.org
