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

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Abstract

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.

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  • Medical Genetics
Original languageEnglish
Pages (from-to)206-207
JournalHuman Genetics
Volume92
Issue number2
Publication statusPublished - 1993
Publication categoryResearch
Peer-reviewedYes