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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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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  • Medical Genetics
Original languageEnglish
Pages (from-to)668-669
JournalHuman Genetics
Volume90
Issue number6
Publication statusPublished - 1993
Publication categoryResearch
Peer-reviewedYes