Exon Resequencing of the Gene Encoding UCMA/GRP Reveals a Common Carboxy-Terminal 138Thr > Ser Polymorphism

被引:1
作者
Osman, Abdimajid [1 ]
Uhlin, Fredrik [2 ]
Franlund, Ebba [1 ]
Fernstrom, Anders [2 ]
Magnusson, Per [1 ]
机构
[1] Linkoping Univ, Fac Hlth Sci, Dept Clin & Expt Med, Div Clin Chem, SE-58185 Linkoping, Sweden
[2] Linkoping Univ, Cty Council Ostergotland, Dept Nephrol, SE-58185 Linkoping, Sweden
关键词
chronic kidney disease; polymorphisms; vascular calcification; CHRONIC KIDNEY-DISEASE; STAGE RENAL-DISEASE; VASCULAR CALCIFICATION; PROTEIN; FRACTURES; CARTILAGE;
D O I
10.7754/Clin.Lab.2013.130123
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
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 affected by pathological calcifications. Methods: We performed a full exon resequencing on DNA samples from 17 chronic kidney disease (CKD) patients (stage 5) and compared the results with 121 healthy controls in a Swedish population. Results: A novel non-synonymous single nucleotide polymorphism (SNP) causing a carboxy-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 serine codon (138Thr > Ser). Six controls and two CKD patients were heterozygous for the 138Thr > Ser polymorphism. Both patients had histories of vascular calcification; however, it is uncertain whether this SNP has any significance for the functional domains of the UCMA protein. In addition, a heterozygous transversion mutation was found in a patient at SNP rs4750328 (A/G) in intron 2, involving an exchange 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.
引用
收藏
页码:1397 / 1401
页数:5
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