An Ala/Thr variation in the coding region of the human cystatin C gene (CST3) detected as a Sst II polymorphism

Summary, in English

A DNA variation in the coding region of the human cystatin C gene has been detected by direct sequencing. The polymorphism, a G/A transition, leads to an Ala/Thr variation in the penultimate amino acid of the signal peptide. The base substitution results in the loss of a SstII restriction site, thus allowing the design of a rapid polymerase chain reaction assay for analysis of this polymorphism in the population.

• Författare: Milagros Balbin; Anders Grubb; Magnus Abrahamson
• Avdelning/ar: Avdelningen för klinisk kemi och farmakologi
• Publiceringsår: 1993
• Språk: Engelska
• Sidor: 206-207
• Publikation/Tidskrift/Serie: Human Genetics
• Volym: 92
• Issue: 2
• Länkar: http://dx.doi.org/10.1007/BF00219694
• Dokumenttyp: Artikel i tidskrift
• Förlag: Springer
• Ämne: Medical Genetics
• Status: Published
• ISBN/ISSN/Övrigt: ISSN: 1432-1203