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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Balbín, M., Freije, J.P., Abrahamson, M. et al. A sequence variation in the human cystatin D gene resulting in an amino acid (Cys/Arg) polymorphism at the protein level. Hum Genet 90, 668–669 (1993). https://doi.org/10.1007/BF00202491
- Internal Medicine
- Protein Level
- Metabolic Disease
- Sequence Variation
- Direct Sequencing