Genotyping of the three major allelic variants of the human mannose-binding lectin gene by denaturing gradient gel electrophoresis

The three major allelic variants of the mannose-binding Lectin gene are res ponsible for structural defects Leading to immune deficiency The correspond ing mutations are all located within exon 1 and result in amino acid substi tutions in the collagenous region of the protein, which is involved in the oligomerization process. We have developed a simple and efficient strategy that permits simultaneous genotyping of these known allelic variants of the MBL gene by means of a single polymerase chain reaction (PCR) reaction fol lowed by a denaturing gradient gel electrophoresis (DGGE). In addition, thi s procedure also allows for screening novel alleles due to mutations locate d elsewhere in the analyzed segment of the gene. During this study, We iden tified a previously undescribed nucleotide change in exon 1 at codon 44. Hu m Mutat 14:80-83, 1999. (C) 1999 Wiley-Liss, Inc.