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

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.

• Författare: Milagros Balbin; José P Freije; Magnus Abrahamson; Gloria Velasco; Anders Grubb; Carlos Lopez-Otin
• Avdelning/ar: Avdelningen för klinisk kemi och farmakologi
• Publiceringsår: 1993
• Språk: Engelska
• Sidor: 668-669
• Publikation/Tidskrift/Serie: Human Genetics
• Volym: 90
• Issue: 6
• Länkar: http://dx.doi.org/10.1007/BF00202491
• Dokumenttyp: Artikel i tidskrift
• Förlag: Springer
• Ämne: Medical Genetics
• Status: Published
• ISBN/ISSN/Övrigt: ISSN: 1432-1203