Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants

L. Shi, B. D. Webb, A. H. Birch, L. Elkhoury, J. McCarthy, X. Cai, K. Oishi, L. Mehta, G. A. Diaz, L. Edelmann, R. Kornreich

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


The Ashkenazi Jewish (AJ) population has an increased risk for a variety of recessive diseases due to historical founder effects and genetic drift. For some, the disease-causing founder mutations have been identified and well-characterized, but for others, further study is necessary. The purpose of this study is to assess the carrier frequencies of 85 pathogenic variants causative of 29 recessive conditions in the AJ population. Up to 3000 AJ individuals were genotyped by Luminex MagPlex®-TAG bead array or Agena Bioscience MassARRAY assays. We identified seven conditions with carrier frequencies higher than 1 in 100, nine between 1 in 100 and 1 in 200, and four between 1 in 200 and 1 in 500. Variants in nine conditions had a detected carrier rate of less than 1 in 500 or were not identified in approximately 2000 AJ individuals. We assessed the combined AJ carrier frequency for 18 relatively prevalent diseases to be 1 in 6, and the risk of AJ individuals to be a carrier couple for one of these 18 diseases as 1 in 441. We note additional recessive genetic conditions should be considered for AJ carrier screening panels.

Original languageEnglish
Pages (from-to)599-604
Number of pages6
JournalClinical Genetics
Issue number4
StatePublished - 1 Apr 2017


  • Ashkenazi Jewish
  • founder mutation
  • genetic counseling
  • prenatal carrier screening


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