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Description
  • Byla popsána efektivní metoda genotypizace genu MBL2 a určena frekvernce jednotlivých genotypů v české populaci. Byl popsán vzácný haplotyp LYD. (cs)
  • 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
  • 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 (en)
Title
  • Ekonomicky nenáročná efektivní genotypizace MBL2 pomocí multiplexní PCR. (cs)
  • Cost-effective genotyping of the MBL2 gene mutations using multiplex PCR
  • Cost-effective genotyping of the MBL2 gene mutations using multiplex PCR (en)
skos:prefLabel
  • Ekonomicky nenáročná efektivní genotypizace MBL2 pomocí multiplexní PCR. (cs)
  • Cost-effective genotyping of the MBL2 gene mutations using multiplex PCR
  • Cost-effective genotyping of the MBL2 gene mutations using multiplex PCR (en)
skos:notation
  • RIV/00216224:14110/04:00028315!RIV09-MZ0-14110___
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • P(NR7921)
http://linked.open...iv/cisloPeriodika
  • 1-2
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 558912
http://linked.open...ai/riv/idVysledku
  • RIV/00216224:14110/04:00028315
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • MBL; genotyping; multiplex PCR; Slavic population (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • CZ - Česká republika
http://linked.open...ontrolniKodProRIV
  • [46FAF4F2AF36]
http://linked.open...i/riv/nazevZdroje
  • Journal of Immunological Methods
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...vavai/riv/projekt
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 295
http://linked.open...iv/tvurceVysledku
  • Freiberger, Tomáš
  • Šedivá, Anna
  • Skalníková, Helena
  • Grombiříková, Hana
  • Chumchalová, Jitka
http://linked.open...ain/vavai/riv/wos
  • 000226392600014
issn
  • 0022-1759
number of pages
http://localhost/t...ganizacniJednotka
  • 14110
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