ANALYSIS OF THE CFTR GENE IN TURKISH CYSTIC-FIBROSIS PATIENTS - IDENTIFICATION OF 3 NOVEL MUTATIONS (3172DELAC, P1013L AND M1028I)

In order to determine the spectrum of cystic fibrosis (CF) mutations I n the Turkish population, a complete coding region of the cystic fibro sis transmembrane conductance regulator (CFTR) gene including exon-int ron boundaries, on 122 unrelated CF chromosomes from 73 Turkish CF fam ilies was analysed by denaturing gradient gel electrophoresis and mult iplex heteroduplex analysis on MDE gel matrix. in addition to 15 previ ously reported mutations and 12 polymorphisms, three novel mutations, namely 3172delAC, P1013L and M1028I, were detected. Delta F508 was fou nd to be present on 18.8% of CF chromosomes. The second most common mu tation was 1677delTA, with a frequency of 7.3%, followed by G542X and 2183AA-->G mutations, with frequencies of 4.9%. These four most common mutations in Turkish CF population account for approximately 36% of m utations. This study could only detect 52.5% of disease-causing mutati ons in this population; 47.5% of CF alleles remain to be identified, r eflecting the high molecular heterogeneity of the Turkish population.