Dynamic modification strategy of the Israeli carrier screening protocol: Inclusion of the Oriental Jewish Group to the cystic fibrosis panel

Orit Reish, Zvi U. Borochowitz, Vardit Adir, Mordechai Shohat, Mazal Karpati, Atalia Shtorch, Avi Orr-Urtreger, Yuval Yaron, Stavit Shalev, Fuad Fares, Ruth Gershoni-Baruch, Tzipora C. Falik-Zaccai, Daphne Chapman-Shimshoni

Research output: Contribution to journalArticlepeer-review


Purpose: A retrospective population study was conducted to determine the carrier frequencies of recently identified mutations in Oriental Jewish cystic fibrosis patients. Methods: Data were collected from 10 medical centers that screened the following mutations: two splice site mutations - 3121-1G>A and 2751 + 1 insT - and one nonsense mutation - the Y1092X in Iraqi Jews. One missense mutation, I1234V, was screened in Yemenite Jews. Results: A total of 2499 Iraqi Jews were tested for one, two, or all three mutations. The 3121-1G>A, Y1092X, and 2751 + 1 insT mutations had a carrier frequency of 1:68.5, 1:435, and 0, respectively. In 1435 Yemenite Jews screened, I1234V had a carrier frequency of 1:130. Conclusion: The 0.84% allele frequency of the three Iraqi founder mutations falls within the Israeli Society of Medical Geneticists' inclusion criteria for screening of 1:60 carrier frequency; hence, Iraqi Jews were added to the carrier screening policy with a panel including the three Iraqi founder mutations in addition to the five Ashkenazi mutations previously detected in Eastern Jews. 2751 + 1insT that was detected in patients only was included in the screening panel to increase the detection rate. 11234V does not meet the inclusion criteria but is now offered on a diagnostic basis and can be added to the screening panel for individuals whose mixed origin includes Yemenite, in addition to protocol-recommended origins. This study demonstrates the dynamic modifications of the Israeli carrier cystic fibrosis screening protocol based on newly detected founder mutations in a large cohort, taking into account mutation impact and intercommunal admixture.

Original languageEnglish
Pages (from-to)101-103
Number of pages3
JournalGenetics in Medicine
Issue number2
StatePublished - Feb 2009


  • Carrier screening
  • Cystic fibrosis
  • Oriental jews
  • Population study

ASJC Scopus subject areas

  • Genetics(clinical)


Dive into the research topics of 'Dynamic modification strategy of the Israeli carrier screening protocol: Inclusion of the Oriental Jewish Group to the cystic fibrosis panel'. Together they form a unique fingerprint.

Cite this