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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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Author

Summary, in English

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.

Publishing year

1993

Language

English

Pages

668-669

Publication/Series

Human Genetics

Volume

90

Issue

6

Document type

Journal article

Publisher

Springer

Topic

  • Medical Genetics

Status

Published

ISBN/ISSN/Other

  • ISSN: 1432-1203