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Determination of Lewis FUT3 gene mutations by PCR using sequence-specific primers enables efficient genotyping of clinical samples.

Författare och institution:
Ammi Grahn (Institutionen för laboratoriemedicin, Avdelningen för klinisk kemi/transfusionsmedicin); A Elmgren (-); L Aberg (-); Lola Svensson (Institutionen för laboratoriemedicin, Avdelningen för klinisk kemi/transfusionsmedicin); P A Jansson (-); Peter Lönnroth (-); Göran Larson (Institutionen för laboratoriemedicin, Avdelningen för klinisk kemi/transfusionsmedicin)
Publicerad i:
Human mutation, 18 ( 4 ) s. 358-9
ISSN:
1098-1004
Publikationstyp:
Artikel, refereegranskad vetenskaplig
Publiceringsår:
2001
Språk:
engelska
Fulltextlänk:
Sammanfattning (abstract):
We have developed a polymerase chain reaction method using sequence-specific primers (PCR-SSP) for rapid and correct genotyping of the common Lewis (FUT3) gene mutations 59T>G, 202T>C, 314C>T, 508G>A, and 1067T>A. The PCR-SSP method was validated on 20 healthy blood donors and 16 non-insulin-dependent diabetic patients. All individuals were in parallel genotyped by our established polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. The FUT3 genotypes, determined with the PCR-SSP method, were in complete accordance with the results of the PCR-RFLP reference method. The PCR-SSP method could also be adapted to assign the presence of a specific mutation to the respective FUT3 alleles. We found the method to be reliable, rapid and cheap with no requirements for restriction enzyme processing.
Ämne (baseras på Högskoleverkets indelning av forskningsämnen):
MEDICIN OCH HÄLSOVETENSKAP ->
Klinisk medicin ->
Annan klinisk medicin ->
Klinisk kemi
Nyckelord:
Alleles, DNA Mutational Analysis, methods, DNA Primers, genetics, Diabetes Mellitus, Type 2, enzymology, genetics, Fucosyltransferases, genetics, Genetic Testing, methods, Genotype, Hemagglutination Tests, Humans, Mutation, genetics, Polymerase Chain Reaction, methods, Polymorphism, Restriction Fragment Length, Reproducibility of Results, Sensitivity and Specificity, Substrate Specificity, Time Factors
Postens nummer:
111140
Posten skapad:
2010-01-28 16:30
Posten ändrad:
2016-08-30 08:59

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