Simultaneous genotyping for all three known structural mutations in the human mannose-binding lectin gene

Hum Mutat. 1997;9(1):41-6. doi: 10.1002/(SICI)1098-1004(1997)9:1<41::AID-HUMU7>3.0.CO;2-S.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Carrier Proteins / genetics*
  • Collectins
  • DNA, Recombinant
  • Genotype
  • Humans
  • Lectins / genetics*
  • Molecular Sequence Data
  • Mutation*
  • Polymerase Chain Reaction
  • Promoter Regions, Genetic

Substances

  • Carrier Proteins
  • Collectins
  • DNA, Recombinant
  • Lectins