Cost-effective genotyping of the MBL2 gene mutations using multiplex PCR

Authors

SKALNÍKOVÁ Helena FREIBERGER Tomáš CHUMCHALOVÁ Jitka GROMBIŘÍKOVÁ Hana ŠEDIVÁ Anna

Year of publication 2004
Type Article in Periodical
Magazine / Source Journal of Immunological Methods
MU Faculty or unit

Faculty of Medicine

Citation
Field Genetics and molecular biology
Keywords MBL; genotyping; multiplex PCR; Slavic population
Description Mannose-binding lectin (MBL) deficiency is associated with increased susceptibility to various infections and autoimmune disorders. It is frequently caused by certain polymorphisms in the MBL2 gene promoter and mutations in the coding region of the gene. In this report we present a novel, rapid, efficient and cost effective method of two multiplex PCRs for the assessment of three structural point mutations within exon 1 at codons 52, 54 and 57. Additional three PCR reactions for detection of the promoter polymorphisms at positions -550 and -221 were performed. MBL2 haplotypes in 359 individuals of the general Czech population were detected using this approach. The rare LYD haplotype was found in 1.1% of all alleles

You are running an old browser version. We recommend updating your browser to its latest version.

More info