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Simultaneous genotyping for all three known structural mutations in the human mannose‐binding lectin gene
Author(s) -
Jack Dominic,
Bidwell Jeffrey,
Turner Malcolm,
Wood Nigel
Publication year - 1997
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1997)9:1<41::aid-humu7>3.0.co;2-s
Subject(s) - mannan binding lectin , biology , genotyping , lectin , gene , mannose , genetics , mutation , computational biology , microbiology and biotechnology , genotype , biochemistry
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. © 1997 Wiley‐Liss, Inc.