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Träfflista för sökning "WFRF:(Avent N D) "

Sökning: WFRF:(Avent N D)

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1.
  • Olsson, Martin L, et al. (författare)
  • A clinically applicable method for determining the three major alleles at the Duffy (FY) blood group locus using polymerase chain reaction with allele-specific primers
  • 1998
  • Ingår i: Transfusion. - 1537-2995. ; 38:2, s. 168-173
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: The clinically significant antigens of the Duffy (Fy [FY]) blood group system are expressed on the red cell form of the FY glycoprotein, a promiscuous chemokine receptor and also a receptor for malarial parasites. After the cloning of cDNA coding for FY glycoprotein, the molecular basis of the three major alleles (Fya/Fyb/Fy) has been established. Because of the mistyping of the silent Fy allele as Fyb, the error rate of current genotyping methods is high in black populations. STUDY DESIGN AND METHODS: Two hundred blood donors (European whites and African Blacks) and some amniotic DNA samples were investigated by a new allele-specific primer polymerase chain reaction technique. Sense primers corresponding to normal and GATA-1-mutated FY gene promoter region sequences were combined with antisense primers discriminating the Fya/Fyb polymorphism. RESULTS: Complete correlation between FY phenotypes and genotypes was obtained in all samples studied, although, in two whites and one black, serology showed weak Fyb expression while polymerase chain reaction indicated a Fyb allele. Gene frequencies were calculated. CONCLUSION: This simple and rapid polymerase chain reaction method was shown to detect the three common alleles at the FY locus in two representative ethnic populations. Its future use as an independent technique in red cell FY investigations and for fetal genotyping in hemolytic disease of the newborn is predicted.
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2.
  • Olsson, Martin L, et al. (författare)
  • The Fy(x) phenotype is associated with a missense mutation in the Fy(b) allele predicting Arg89Cys in the Duffy glycoprotein
  • 1998
  • Ingår i: British Journal of Haematology. - : Wiley. - 0007-1048. ; 103:4, s. 1184-1191
  • Tidskriftsartikel (refereegranskat)abstract
    • The molecular basis of the three major alleles (Fy(a)/Fy(b)/Fy) of the Duffy (FY) blood group system has recently been established but the Fy(x) phenotype associated with weak expression of the Fy(b) and other FY antigens is poorly understood. In the Fy(x) genes of five unrelated British and Swedish donors with the Fy(a+b+weak) phenotype we found two missense mutations predicting amino acid changes Arg89Cys and Ala100Thr in the FY glycoprotein. The same mutations were found in two Fy(a-b+weak) samples from individuals of Swedish and Algerian origin. Their red blood cells showed a marked decrease in Fy(b), Fy3 and Fy6 expression measured by routine serology and flow cytometry. The rare FY genotypes Fy(x)Fy(x) and Fy(x)Fy were confirmed by family studies and DNA sequencing. Screening by allele-specific primer PCR (ASP-PCR) for these mutations among 100 Caucasian and 100 Black random blood donors indicated allele frequencies of 2.5% and 0% respectively. Ala100Thr alone was present in 33% of the Caucasians (but none of the Blacks) with no weakening of FY expression. A novel allele at the FY locus associated with the Fy(x) phenotype was studied. Mistyping of this weak Fy(b) antigen in clinical transfusion medicine may lead to delayed haemolytic transfusion reactions in immunized patients. A potential role for genomic typing is proposed.
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  • Resultat 1-2 av 2
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tidskriftsartikel (2)
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refereegranskat (2)
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Olsson, Martin L (2)
Avent, N D (2)
Jones, J. (1)
Hansson, C (1)
Poole, J. (1)
Daniels, G. (1)
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Akesson, I E (1)
Green, C A (1)
Daniels, G L (1)
Smythe, J S (1)
Hansson, Carola (1)
Mallinson, G (1)
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Lunds universitet (2)
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Engelska (2)
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Medicin och hälsovetenskap (2)
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