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

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F04%3A00028315" target="_blank" >RIV/00216224:14110/04:00028315 - isvavai.cz</a>
Result on the web
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DOI - Digital Object Identifier
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Result language
angličtina
Original language name
Cost-effective genotyping of the MBL2 gene mutations using multiplex PCR
Original language 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
Czech name
Ekonomicky nenáročná efektivní genotypizace MBL2 pomocí multiplexní PCR.
Czech description
Byla popsána efektivní metoda genotypizace genu MBL2 a určena frekvernce jednotlivých genotypů v české populaci. Byl popsán vzácný haplotyp LYD.

Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Project
<a href="/en/project/NR7921" target="_blank" >NR7921: Genetic determination of clinical manifestation in patients with hereditary angioedema</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2004
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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