title: The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program.
abstract: BACKGROUND
  Tay-Sachs disease is an autosomal recessive disease characterized by progressive neurologic degeneration, fatal in early childhood. In the Ashkenazi Jewish population the disease incidence is about 1 in every 3,500 newborns and the carrier frequency is 1 in every 29 individuals. Carrier screening programs for Tay-Sachs disease have reduced disease incidence by 90% in high-risk populations in several countries. The Brazilian Jewish population is estimated at 90,000 individuals. Currently, there is no screening program for Tay-Sachs disease in this population.
  
  
  OBJECTIVE
  To evaluate the importance of a Tay-Sachs disease carrier screening program in the Brazilian Jewish population by determining the frequency of heterozygotes and the acceptance of the program by the community.
  
  
  METHODS
  Laboratory of Molecular Genetics--Institute of Biosciences--Universidade de São Paulo.
  
  
  METHODS
  581 senior students from selected Jewish high schools.
  
  
  METHODS
  Molecular analysis of Tay-Sachs disease causing mutations by PCR amplification of genomic DNA, followed by restriction enzyme digestion.
  
  
  RESULTS
  Among 581 students that attended educational classes, 404 (70%) elected to be tested for Tay-Sachs disease mutations. Of these, approximately 65% were of Ashkenazi Jewish origin. Eight carriers were detected corresponding to a carrier frequency of 1 in every 33 individuals in the Ashkenazi Jewish fraction of the sample.
  
  
  CONCLUSIONS
  The frequency of Tay-Sachs disease carriers among the Ashkenazi Jewish population of Brazil is similar to that of other countries where carrier screening programs have led to a significant decrease in disease incidence. Therefore, it is justifiable to implement a Tay-Sachs disease carrier screening program for the Brazilian Jewish population.
authors.affiliation: Department of Genetics, Institute of Biosciences, Universidade de São Paulo, São Paulo, Brazil.
authors.forename: R
authors.initials: R
authors.lastname: Rozenberg
authors.forename: L da V
authors.initials: Lda V
authors.lastname: Pereira
mesh_terms: D000293:Adolescent; D001938:Brazil; D006580:Genetic Carrier Screening / Q000379:methods*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007585:Jews / Q000235:genetics*; D009154:Mutation; D013661:Tay-Sachs Disease / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics