Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients

Identification of mutations causing cystic fibrosis (CF) in the Turkish pop ulation is essential for assessment of the molecular basis of CF in Turkey and the development of strategies for prenatal diagnosis and genetic counse ling. Here, we present an updated report of mutations found in the Turkish CF population from an extensive screening study of the entire coding region , including exon-intron boundaries and the promoter region. Cases for which mutations could not be identified were also screened for previously define d large alterations and (TG)(m)T-n-M470V loci. This study revealed a total of 27 different mutations accounting for almost 60% of disease genes in the Turkish population. In this study, we also identified the haplotypes assoc iated with 17 mutations and those associated with unknown mutations. The mu tation spectrum of CF in Turkey and its associated haplotypes indicated the presence of a major Mediterranean component in the contemporary Turkish po pulation.