Biopolymers and cell. 1994. Volume 10. № 3-4. 58 - 62

N. M. Gusak, N. G. Gorownko, N. L. Homenko, T. I. Buzhievskaya

A METHODOLOGICAL APPROACH ALLOWING A FASTER AND EASIER PROCEDURE FOR IDENTIFICATION OF AF508 IN CFTR GENE

Summary

    The procedure consisted of two steps (direct amplification of DNA from dried blood spots and identification of mutation with the modified method of diagnostic heteroduplexes) was proposed to test the most common mutation in the cystic fibrosis transmembrane regulator gene (AF508). The advantages of this approach for screening of different population groups are discussed. The procedure was used to examine 21 families with positive history of CF.