Two new molecular bases for the Dombrock null phenotype
Författare
Summary, in English
Red blood cells (RBCs) with the Do(null) phenotype lack all antigens in the Dombrock blood group system, i.e. Do(a), Do(b), Gy(a), Hy and Jo(a). Sequence analysis of DNA from one proband with the Do(null) phenotype revealed a single nucleotide mutation of t to c in the donor splice site of DO (IVS1 + 2t > c), with outsplicing of exon 2. Analysis of a second proband revealed a homozygous nonsense mutation 442 C > T in exon 2 predicting a premature stop codon (Gln148 Stop). The molecular bases described in these two probands provide an explanation for the lack of Do glycoprotein on their RBCs.
Publiceringsår
2002
Språk
Engelska
Sidor
765-767
Publikation/Tidskrift/Serie
British Journal of Haematology
Volym
117
Issue
3
Länkar
Dokumenttyp
Artikel i tidskrift
Förlag
Wiley-Blackwell
Ämne
- Hematology
Status
Published
ISBN/ISSN/Övrigt
- ISSN: 0007-1048