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Expression of a novel missense mutation found in the A4GALT gene of Amish individuals with the p phenotype.

In English

Författare

Summary, in English

BACKGROUND: The rare p phenotype is found at a higher frequency in Amish people than in other populations. Different mutations in the 4-alpha-galactosyltransferase gene (A4GALT), responsible for synthesis of P(k) (Gb(3)) antigen, have been found to cause the P(k)-deficient p phenotype. The aim of this study was to explore the molecular background of the p phenotype in people of Amish origin. STUDY DESIGN AND METHODS: Twenty blood samples with the p phenotype, 19 of them from Amish individuals and 1 Pakistani, were investigated. Amplification of genomic DNA by polymerase chain reaction (PCR) and sequencing by capillary electrophoresis were performed. Blood donors of different geographic origin were screened with PCR-allele-specific primer to investigate whether the novel mutation occurs among individuals with common phenotypes. The mutation was also cloned into an expression vector and transfected to Namalwa cells, which do not normally express P(k). P(k) expression on the transfected cells and P/P(k) on red blood cells (RBCs), both with p and with common phenotypes, were analyzed by flow cytometry. RESULTS: All 20 samples were homozygous for 299C>T changing serine to leucine in a region that is highly conserved in homologous genes across species borders. The mutation was not found in any of the 500 alleles of blood donors investigated. P(k) expression was neither observed by serology and flow cytometry on p RBCs from Amish individuals nor following transfection of cells with constructs containing the novel missense mutation. CONCLUSION: A novel A4GALT missense mutation causes the p phenotype in Amish individuals.

Publiceringsår

2008

Språk

Engelska

Sidor

479-487

Publikation/Tidskrift/Serie

Transfusion

Volym

48

Issue

3

Dokumenttyp

Artikel i tidskrift

Förlag

Wiley-Blackwell

Ämne

  • Hematology

Status

Published

Forskningsgrupp

  • Transfusion Medicine

ISBN/ISSN/Övrigt

  • ISSN: 1537-2995