Large deletions involving the regulatory upstream regions of A4GALT give rise to principally novel P1PK-null alleles.

Summary, in English

Cells of the clinically important p histo-blood group phenotype lack P1, P(k) , and P glycosphingolipid antigens. All cases investigated so far are due to alterations in the 4-α-galactosyltransferase-encoding Exon 3 of A4GALT. Repetitive elements in the genome can mediate DNA rearrangements, the most abundant being the Alu family of repeats.

• Author: Julia Westman; Åsa Hellberg; Thierry Peyrard; Britt Thuresson; Martin L Olsson
• Department/s: Division of Hematology and Transfusion Medicine; Transfusion Medicine
• Publishing year: 2014
• Language: English
• Pages: 1831-1835
• Publication/Series: Transfusion
• Volume: 54
• Issue: 7
• Links: http://www.ncbi.nlm.nih.gov/pubmed/24417201?dopt=Abstract; http://dx.doi.org/10.1111/trf.12543
• Document type: Journal article
• Publisher: Wiley-Blackwell
• Topic: Hematology
• Status: Published
• Research group: Transfusion Medicine
• ISBN/ISSN/Other: ISSN: 1537-2995