title: [Analysis of Bcl I polymorphism of factor VIII gene in the molecular diagnosis of female hemophilia A carriers in families from northwestern Venezuela].
abstract: OBJECTIVE
  To identify carrier females in segregant families of haemophilia A from Zulia state-Venezuela.
  
  
  METHODS
  The polymorphisms' analysis linked to the gene, independently of the mutation nature is the most suitable method to identify carriers, because it permits to track the mutated gene. This study is comprised of 139 ADN samples distributed in 20 families affected by haemophilia A. The diagnosis of carrier was made by polymerase chain reaction (PCR), a fragment of 142 pb corresponding to intron 18 of the factor VIII gene, which shows a restriction polymorphism for the Bcl I enzyme.
  
  
  RESULTS
  The frequency of the Bcl I alleles in the 43 unrelated individuals was 0.35 and 0.65 for the 142 pb and 99 + 43 pb, respectively. In the 35 women that required diagnosis, we were able to establish the carrier status for 11, and 4 were excluded to be.
  
  
  CONCLUSIONS
  The Bcl I polymorphism at the FVIII gene was useful in the 43% (15/35) of the women that required diagnosis. It's possible to identify carriers for haemophilia A in most of the families from Zulia state-Venezuela employing several polymorphisms at the Factor VIII gene.
mesh_terms: D005169:Factor VIII / Q000235:genetics*; D005260:Female; D019940:Genes, bcl-1 / Q000235:genetics*; D006580:Genetic Carrier Screening / Q000379:methods*; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D014687:Venezuela