title: Prenatal diagnosis in a cystic fibrosis family: a combined molecular strategy for a precise diagnosis.
abstract: BACKGROUND
  The high genetic heterogeneity in populations with a wide spectrum of mutations in the CF transmembrane conductance regulator gene (CFTR), makes the detection of mutations a very hard and difficult task, thereby limiting the accurate diagnosis of the disease, mainly in patients with uncharacterized mutations.
  
  
  METHODS
  Molecular strategies, like targeted identification of the most frequent CFTR mutations in Mexican population combined with linkage analysis using markers, is very useful for carrier detection and for prenatal diagnosis in affected families with CF. In this paper we show that the combination of methodologies was a crucial alternative to reach a precise prenatal CF diagnosis. We documented CF diagnosis in a 14th-week fetus combining the screening of the most common mutations in Mexican population with linkage analysis of two extragenic polymorphisms (XV2C/TaqI and KM19/PstI).
  
  
  RESULTS
  We determined that the fetus inherited the PG542X mutation from its mother and an unknown mutation from its father through the chromosomal phases analysis.
authors.forename: Margarita
authors.initials: M
authors.lastname: Chávez-Saldaña
authors.forename: Ricardo
authors.initials: R
authors.lastname: García-Cavazos
authors.forename: Rosa María
authors.initials: RM
authors.lastname: Vigueras
authors.forename: Lorena
authors.initials: L
authors.lastname: Orozco
mesh_terms: D002648:Child; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D008297:Male; D008800:Mexico / Q000453:epidemiology; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator