✦ LIBER ✦
An Ala/Thr variation in the coding region of the human cystatin C gene (CST3) detected as a SstII polymorphism
✍ Scribed by Milagros Balbín; Anders Grubb; Magnus Abrahamson
- Publisher
- Springer
- Year
- 1993
- Tongue
- English
- Weight
- 157 KB
- Volume
- 92
- Category
- Article
- ISSN
- 0340-6717
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✦ Synopsis
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.