title: Simultaneous genotyping for all three known structural mutations in the human mannose-binding lectin gene.
abstract: We describe a rapid and simple method for genotyping the three known structural mutations within exon 1 of the mannan-binding lectin (MBL) gene. A PCR-amplifiable synthetic DNA (Universal Heteroduplex Generator) was annealed to genomic PCR product from exon 1 to generate unique DNA heteroduplexes for each mutation. Heteroduplexes were then resolved by non-denaturing polyacrylamide gel electrophoresis. The technique was initially validated with previously typed samples and then applied to previously untyped samples with the results confirmed by DNA sequencing.
authors.affiliation: Immunobiology Unit, University of London, United Kingdom.
authors.forename: D
authors.initials: D
authors.lastname: Jack
authors.forename: J
authors.initials: J
authors.lastname: Bidwell
authors.forename: M
authors.initials: M
authors.lastname: Turner
authors.forename: N
authors.initials: N
authors.lastname: Wood
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D037222:Collectins; D004274:DNA, Recombinant; D005838:Genotype; D006801:Humans; D037102:Lectins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic
chemical_list: D002352:Carrier Proteins; D037222:Collectins; D004274:DNA, Recombinant; D037102:Lectins