An Ala/Thr variation in the coding region of the human cystatin C gene (CST3) detected as a SstII polymorphism |
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| Authors: | Milagros Balbín Anders Grubb Magnus Abrahamson |
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| Institution: | (1) Department of Clinical Chemistry, University of Lund, University Hospital, S-221 85 Lund, Sweden |
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| Abstract: | A DNA variation in the coding region of the human cystatin C gene has been detected by direct sequencing. The polymorphism, a G/A transition, leads to an Ala/Thr variation in the penultimate amino acid of the signal peptide. The base substitution results in the loss of a SstII restriction site, thus allowing the design of a rapid polymerase chain reaction assay for analysis of this polymorphism in the population. |
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