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A sequence variation in the human cystatin D gene resulting in an amino acid (Cys/Arg) polymorphism at the protein
M Balbín1, J P Freije, M Abrahamson
1Department of Clinical Chemistry, University of Lund, University Hospital, Sweden.
Human Genetics
|February 1, 1993
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.