Jack D, Bidwell J, Turner M, Wood N
Immunobiology Unit, University of London, United Kingdom.
Hum Mutat. 1997;9(1):41-6. doi: 10.1002/(SICI)1098-1004(1997)9:1<41::AID-HUMU7>3.0.CO;2-S.
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.