title: Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-1G-->A).
abstract: We have analyzed 97 CF unrelated Mexican families for mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Our initial screening for 12 selected CFTR mutations led to mutation detection in 56.66% of the tested chromosomes. In patients with at least one unknown mutation after preliminary screening, an extensive analysis of the CFTR gene by single stranded conformation polymorphism (SSCP) or by multiplex heteroduplex (mHET) analysis was performed. A total of 34 different mutations representing 74.58% of the CF chromosomes were identified, including five novel CFTR mutations: W1098C, P750L, 846delT, 4160insGGGG and 297-1G-->A. The level of detection of the CF mutations in Mexico is still lower than that observed in other populations with a relatively low frequency of the deltaF508 mutation, mainly from southern Europe. The CFTR gene analysis described here clearly 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.
authors.affiliation: Department of Research in Human Genetics, National Institute of Pediatrics, Mexico City, Mexico. lorozco@buzon.main.conacyt.mx
authors.forename: L
authors.initials: L
authors.lastname: Orozco
authors.forename: R
authors.initials: R
authors.lastname: Velázquez
authors.forename: J
authors.initials: J
authors.lastname: Zielenski
authors.forename: L C
authors.initials: LC
authors.lastname: Tsui
authors.forename: M
authors.initials: M
authors.lastname: Chávez
authors.forename: J L
authors.initials: JL
authors.lastname: Lezana
authors.forename: Y
authors.initials: Y
authors.lastname: Saldaña
authors.forename: E
authors.initials: E
authors.lastname: Hernández
authors.forename: A
authors.initials: A
authors.lastname: Carnevale
mesh_terms: D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008800:Mexico / Q000453:epidemiology; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator