A sequence variation in the human cystatin D gene resulting in an amino acid (Cys/Arg) polymorphism at the protein level |
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Authors: | Milagros Balbín José P Freije Magnus Abrahamson Gloria Velasco Anders Grubb Carlos López-Otín |
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Institution: | (1) Department of Clinical Chemistry, University of Lund, University Hospital, S-22185 Lund, Sweden;(2) Departamento de Biología Funcional, Area de Bioquímica, Universidad de Oviedo, E-33006 Oviedo, Spain |
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Abstract: | A polymorphism in the coding region of the human cystatin D gene has been detected by direct sequencing of amplified DNA from different individuals. The variation, resulting from a T/C transition in exon 1 of the gene, causes an amino acid variation, Cys/Arg, at the protein level. An allele-specific oligonucleotide hybridization assay was developed and used to demonstrate this polymorphism in the population. The deduced frequencies were 0.55 and 0.45 for the Cys and Arg variant-encoding alleles, respectively. |
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