Two new molecular bases for the Dombrock null phenotype
(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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1123933
- author
- Rios, Maria ; Storry, Jill LU ; Hue-Roye, Kim ; Chung, Amy and Reid, Marion E
- publishing date
- 2002
- type
- Contribution to journal
- publication status
- published
- subject
- in
- British Journal of Haematology
- volume
- 117
- issue
- 3
- pages
- 765 - 767
- publisher
- Wiley-Blackwell
- 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
- 2016-04-01 12:35:20
- date last changed
- 2022-08-14 01:34:45
@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 = {{Wiley-Blackwell}}, 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}}, doi = {{10.1046/j.1365-2141.2002.03524.x}}, volume = {{117}}, year = {{2002}}, }