A sequence variation in the human cystatin D gene resulting in an amino acid (Cys/Arg) polymorphism at the protein level

✍ Scribed by Milagros Balbín; José P. Freije; Magnus Abrahamson; Gloria Velasco; Anders Grubb; Carlos López-Otín

• Book ID: 104661733
• Publisher: Springer
• Year: 1993
• Tongue: English
• Weight: 265 KB
• Volume: 90
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00202491

✦ Synopsis

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.