Article
Two new molecular bases for the Dombrock null phenotype.
British journal of haematology - 1 Jun 2002
Rios Maria, Storry Jill R, Hue-Roye Kim, Chung Amy, Reid Marion E
Abstract excerpt
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 >...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.