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Two new molecular bases for the Dombrock null phenotype

Rios, Maria; Storry, Jill LU ; Hue-Roye, Kim; Chung, Amy and Reid, Marion E (2002) In British Journal of Haematology 117(3). p.765-767
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.
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author
publishing date
type
Contribution to journal
publication status
published
subject
in
British Journal of Haematology
volume
117
issue
3
pages
765 - 767
publisher
Federation of European Neuroscience Societies and Blackwell Publishing Ltd
external identifiers
  • pmid:12028057
  • scopus:0036098760
ISSN
0007-1048
DOI
10.1046/j.1365-2141.2002.03524.x
language
English
LU publication?
no
id
00c9d285-85f4-4a66-8236-f01c874933e7 (old id 1123933)
date added to LUP
2008-05-29 15:24:35
date last changed
2017-01-01 05:16:40
@article{00c9d285-85f4-4a66-8236-f01c874933e7,
  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.},
  author       = {Rios, Maria and Storry, Jill and Hue-Roye, Kim and Chung, Amy and Reid, Marion E},
  issn         = {0007-1048},
  language     = {eng},
  number       = {3},
  pages        = {765--767},
  publisher    = {Federation of European Neuroscience Societies and Blackwell Publishing Ltd},
  series       = {British Journal of Haematology},
  title        = {Two new molecular bases for the Dombrock null phenotype},
  url          = {http://dx.doi.org/10.1046/j.1365-2141.2002.03524.x},
  volume       = {117},
  year         = {2002},
}