Two new molecular bases for the Dombrock null phenotype

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

Abstract

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.

Detaljer

Författare
  • Maria Rios
  • Jill Storry
  • Kim Hue-Roye
  • Amy Chung
  • Marion E Reid
Externa organisationer
  • External Organization - Unknown
Forskningsområden

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Hematologi
Originalspråkengelska
Sidor (från-till)765-767
TidskriftBritish Journal of Haematology
Volym117
Utgivningsnummer3
StatusPublished - 2002
PublikationskategoriForskning
Peer review utfördJa
Externt publiceradJa