Abstract:
:The Kidd (JK) blood group system is of importance in transfusion medicine. The Jk(null) phenotype is associated with absence of the urea transporter in erythrocytes and moderately reduced ability to concentrate urine. We and others recently reported different molecular alterations in the silenced Jkb-like alleles of Polynesians and Finns, populations with higher Jk(null) frequencies. Here we report novel molecular bases of this phenotype in Caucasians. Blood samples from a Swiss and an English family were investigated by serological methods, urea haemolysis test and JK genotyping. Genomic DNA and JK mRNA were sequenced. Genotyping showed homozygosity for Jka-like alleles. The Swiss Jk(null) alleles deviated from wild-type Jka sequence by a nonsense mutation in exon 7 causing an immediate stop codon (Tyr194stop). The English Jk(null) alleles revealed a genomic 1.6 kilobase pair deletion including exons 4 and 5, the former of which includes the translation start codon. Multiple mRNA splicing variants were detected in reticulocytes but exons 3-5 were absent in all transcripts analysed. Screening for these alleles was negative in random donors. Two novel molecular alterations at the JK locus were defined and a multiplex polymerase chain reaction method for detection of the five known silent Jk alleles was developed to complement JK genotyping in clinical transfusion medicine.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Irshaid NM,Eicher NI,Hustinx H,Poole J,Olsson MLdoi
10.1046/j.1365-2141.2002.03238.xsubject
Has Abstractpub_date
2002-02-01 00:00:00pages
445-53issue
2eissn
0007-1048issn
1365-2141pii
3238journal_volume
116pub_type
杂志文章abstract::T- and B-cell function after autologous bone marrow transplantation (ABMT) was assessed and compared with that found after allogeneic BMT and after chemotherapy only. In all 16 patients with acute leukaemia in remission treated with high-dose chemotherapy and single or double ABMT, T-helper numbers and function in an ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1986.tb07547.x
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abstract::UK National External Quality Assessment Service surveys indicate continuing problems in malaria diagnosis: inaccurate calculation of parasitaemia or failure to estimate it altogether, difficulty distinguishing Plasmodium vivax from P. ovale, reporting malaria parasites when none were present and misidentification of P...
journal_title:British journal of haematology
pub_type: 信件,实务指引
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journal_title:British journal of haematology
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journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1985.tb07360.x
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journal_title:British journal of haematology
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journal_title:British journal of haematology
pub_type: 杂志文章
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journal_title:British journal of haematology
pub_type: 临床试验,杂志文章
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更新日期:1995-09-01 00:00:00
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journal_title:British journal of haematology
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journal_title:British journal of haematology
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journal_title:British journal of haematology
pub_type: 杂志文章
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更新日期:2015-07-01 00:00:00
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journal_title:British journal of haematology
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pub_type: 杂志文章,多中心研究
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journal_title:British journal of haematology
pub_type: 杂志文章
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journal_title:British journal of haematology
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