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Exon resequencing of the gene encoding UCMA/GRP reveals a common carboxy-terminal 138Thr > Ser Polymorphism
Linköping University, Department of Clinical and Experimental Medicine, Clinical Chemistry. Linköping University, Faculty of Health Sciences. Östergötlands Läns Landsting, Center for Diagnostics, Department of Clinical Chemistry.
Linköping University, Department of Medical and Health Sciences, Internal Medicine. Linköping University, Faculty of Health Sciences. Östergötlands Läns Landsting, Heart and Medicine Center, Department of Nephrology.
Linköping University, Department of Clinical and Experimental Medicine, Clinical Chemistry. Linköping University, Faculty of Health Sciences.
Östergötlands Läns Landsting, Heart and Medicine Center, Department of Nephrology. Linköping University, Department of Medical and Health Sciences, Nephrology. Linköping University, Faculty of Health Sciences.
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2013 (English)In: Clinical Laboratory, ISSN 1433-6510, Vol. 59, no 11-12, 1397-1401 p.Article in journal (Refereed) Published
Abstract [en]

Background: The upper zone of growth plate and cartilage matrix-associated protein (UCMA), also called Gla-rich protein (GRP), is a novel protein found at sites af-fected by pathological calcifications.Methods: We performed a full exon resequencing on DNA samples from 17 chronic kid-ney disease (CKD) patients (stage 5) and compared the results with 121 healthy con-trols in a Swedish population.Results: A novel non-synonymous single nucleotide polymorphism (SNP) causing a car-boxy-terminal amino acid exchange was found. This SNP involves an alteration of the last ACC codon for threonine in exon 5 (adjacent to the stop codon) to an AGC ser-ine codon (138Thr > Ser). Six controls and two CKD patients were heterozygous for the 138Thr > Ser polymorphism. Both patients had histories of vascular calcifica-tion; however, it is uncertain whether this SNP has any significance for the func-tional domains of the UCMA protein. In addition, a heterozygous transversion muta-tion was found in a patient at SNP rs4750328 (A/G) in intron 2, involving an ex-change of the ancestral A allele to a T base.Conclusions: The 138Thr > Ser polymorphism seems to be the only non-synonymous SNP found in the UCMA gene in a Swedish population.

Place, publisher, year, edition, pages
Clinical Laboratory Publications , 2013. Vol. 59, no 11-12, 1397-1401 p.
Keyword [en]
chronic kidney disease, polymorphisms, vascular calcification
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Medical and Health Sciences
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URN: urn:nbn:se:liu:diva-102330DOI: 10.7754/Clin.Lab.2013.130123ISI: 000328725100024OAI: oai:DiVA.org:liu-102330DiVA: diva2:676402
Available from: 2013-12-05 Created: 2013-12-05 Last updated: 2017-12-06Bibliographically approved

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Osman, AbdimajidUhlin, FredrikFrånlund, EbbaFernström, AndersMagnusson, Per

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Osman, AbdimajidUhlin, FredrikFrånlund, EbbaFernström, AndersMagnusson, Per
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Clinical ChemistryFaculty of Health SciencesDepartment of Clinical ChemistryInternal MedicineDepartment of NephrologyNephrology
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