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A simple screening ...
A simple screening assay for the most common JK*0 alleles revealed compound heterozygosity in Jk(a-b-) probands from Guam
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- Wester, Elisabet Sjöberg (författare)
- Regional Laboratories Region Skåne,Nordic Reference Laboratory for Blood Group Genomic Typing
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- Gustafsson, Julia (författare)
- Regional Laboratories Region Skåne
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- Snell, Beverly (författare)
- Gulf Coast Research and Education Center, University of Florida
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- Spruell, Peggy (författare)
- Gulf Coast Research and Education Center, University of Florida
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- Hellberg, Åsa (författare)
- Nordic Reference Laboratory for Blood Group Genomic Typing,Regional Laboratories Region Skåne
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- Olsson, Martin L. (författare)
- Lund University,Lunds universitet,Institutionen för laboratoriemedicin,Medicinska fakulteten,Transfusionsmedicin,Forskargrupper vid Lunds universitet,Department of Laboratory Medicine,Faculty of Medicine,Transfusion Medicine,Lund University Research Groups
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- Storry, Jill R. (författare)
- Nordic Reference Laboratory for Blood Group Genomic Typing,Regional Laboratories Region Skåne
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(creator_code:org_t)
- 2009
- 2009
- Engelska 5 s.
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Ingår i: Immunohematology. - 0894-203X. ; 25:4, s. 165-169
- Relaterad länk:
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https://www.exeley.c...
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https://lup.lub.lu.s...
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Abstract
Ämnesord
Stäng
- The Jk(a-b-) phenotype results from alterations in the JK gene and is characterized by absence of the RBC urea transporter in the cell membrane. The frequency of Jk(a-b-) varies among populations, but this phenotype is most commonly found in people of Polynesian and Finnish descent. Although rare, Jk(a-b-) individuals present a clinical challenge because anti-Jk3 is produced readily in response to transfusion and pregnancy, and Jk(a-b-) blood is not routinely available. Identification of Jk(a-b-) patients and donors is most often performed serologically. However, ten JK*o alleles have been identified, and this information can be used in DNA-based typing. We selected five JK*o alleles that had been encountered by our reference laboratory in two or more samples from unrelated individuals and designed an allele-specific primer PCR assay for use as an initial screening tool. After in-house validation, we tested genomic DNA from a family: a mother and her two sons referred to us for genetic investigation of their Jk(a-b-) phenotypes. Two different nucleotide substitutions, -1g>a in intron 5 (IVS5) and 956C>T in exon 10, originally associated with Polynesian and Indian/African populations respectively, were identified in the family. The mother and one son were compound heterozygotes, and the second son was homozygous for IVS5-1g>a. We conclude that the effort to design and validate such a screening assay was cost-efficient when compared with DNA sequencing costs. Furthermore, selection of the more common JK*o mutations was a practical approach that resulted in rapid identification of the genetic bases behind the Jk(a-b-) phenotypes in this unusual family. Although an obvious target for eventual inclusion into high-throughput genotyping platforms for clinical diagnostic services, current systems are very limited. Our approach provides a simple and inexpensive method for the identification of these rare alleles.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Hematologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Hematology (hsv//eng)
Nyckelord
- JK blood group system
- Molecular basis
- Null phenotypes
- PCR-ASP
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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