Cost-effective genotyping of the MBL2 gene mutations usingmultiplex PCR
2004
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
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