SAC I RESTRICTION FRAGMENT LENGTH POLYMORPHISM (RFLP) RELATED TO THE HUMAN CST2 GENE

Abstract

Restriction Fragment Length Polymorphism (RFLP) related to cystatin gene (CST) family was detected in the Japanese population by using restriction enzyme Sac I. A polymorphic site, located at 0.9kb from the 3´ end of the CST2 gene, revealed a two allele polymorphism with band sizes of 3.5kb and 8.3kb by hybridization with probe including exon 2 of the CST1 gene. The gene frequencies in the Japanese population were 0.326 for 3.5 kb allele and 0.674 for 8.3kb allele (n=86). The phenotypes of the polymorphism showed no association with the previously reported electrophoretic cystatin SA protein phenotypes²²⁾.