Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations [W1098C, 846delT, P750L, 4160insGGGG and 297-1G -> A)

We have analyzed 97 CF unrelated Mexican families for mutations in the cyst ic fibrosis transmembrane conductance regulator (CFTR) gene. Our initial sc reening for 12 selected CFTR mutations led to mutation detection in 56.66% of the tested chromosomes. In patients with at least one unknown mutation a fter preliminary screening, an extensive analysis of the CFTR gene by singl e stranded conformation polymorphism (SSCP)or by multiplex heteroduplex (mH ET) analysis was performed. A total of 34 different mutations representing 74.58% of the CF chromosomes were identified. including five novel CFTR mut ations: W1098C, P750L, 846delT, 4160insGGGG and 297-1G-->A. The level of de tection of the CF mutations in Mexico is still lower than that observed in other populations with a relatively low frequency of the Delta F508 mutatio n, mainly from southern Europe. The CFTR gene analysis described here clear ly demonstrated the high heterogeneity of our CF population. which could be explained by the complex ethnic composition of the Mexican population, in particular by the strong impact of the genetic pool from southern European countries.