SIMULTANEOUS GENOTYPING FOR ALL 3 KNOWN STRUCTURAL MUTATIONS IN THE HUMAN MANNOSE-BINDING LECTIN GENE

We describe a rapid and simple method for genotyping the three known s tructural mutations within exon 1 of the mannan binding lectin (MEL) g ene. A PCR-amplifiable synthetic DNA (Universal Heteroduplex Generator ) was annealed to genomic PCR product from exon 1 to generate unique D NA heteroduplexes for each mutation. Heteroduplexes were then resolved by non denaturing polyacrylamide gel electrophoresis. The technique w as initially validated with previously typed samples and then applied to previously untyped samples with the results confirmed by DNA sequen cing. (C) 1997 Wiley Liss, Inc.