title: XV-2c/KM19 haplotypes analysis of cystic fibrosis patients from western Mexico.
abstract: The analysis of polymorphic markers within or closely linked to the cystic fibrosis transmembrane regulator (CFTR) gene is useful as a molecular tool for carrier detection of known and unknown mutations. To establish the association between mutations in the CFTR gene in western Mexican cystic fibrosis (CF) patients, the distribution of XV2c/KM19 haplotypes was analyzed by PCR and restriction enzyme digestion in 384 chromosomes from 74 CF patients, their unaffected parents, and normal subjects. The haplotype analysis revealed that haplotype B was present in 71.9% of CF chromosomes compared to 0% of non-CF chromosomes. The F508del and G542X mutations were strongly associated with haplotype B (96.7% and 100% of chromosomes, respectively). The haplotype distribution of the CF chromosomes carrying other CFTR mutations had a more heterogeneous background. Our results show that haplotype B is associated with CFTR mutations. Therefore, haplotype analysis is a suitable alternate strategy for screening CF patients with a heterogeneous clinical picture from populations with a high molecular heterogeneity where carrier detection programs are not available. In addition, it may be a helpful diagnostic tool for genetic counseling and carrier detection in the relatives of CF patients and in couples who are planning to have children.
authors.affiliation: División de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.
authors.forename: S E
authors.initials: SE
authors.lastname: Flores-Martínez
authors.forename: J F
authors.initials: JF
authors.lastname: Martínez
authors.forename: M V
authors.initials: MV
authors.lastname: Machorro-Lazo
authors.forename: A G
authors.initials: AG
authors.lastname: García-Zapién
authors.forename: L
authors.initials: L
authors.lastname: Salgado-Goytia
authors.forename: E G
authors.initials: EG
authors.lastname: Cruz-Quevedo
authors.forename: M C
authors.initials: MC
authors.lastname: Morán-Moguel
authors.forename: J
authors.initials: J
authors.lastname: Sánchez-Corona
mesh_terms: D000328:Adult; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005817:Genetic Counseling; D005820:Genetic Testing; D006239:Haplotypes; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008800:Mexico; D008875:Middle Aged; D017354:Point Mutation
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator