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Human Genetics

, Volume 96, Issue 2, pp 193–197 | Cite as

Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel

  • Eitan Kerem
  • Yoram M. Kalman
  • Yaacov Yahav
  • Tzipora Shoshani
  • Dvora Abeliovich
  • Amir Szeinberg
  • Joseph Rivlin
  • Hanna Blau
  • Asher Tal
  • Lea Ben-Tur
  • Chaim Springer
  • Arie Augarten
  • Simon Godfrey
  • Israela Lerer
  • David Branski
  • Moshe Friedman
  • Batsheva Kerem
Original Investigation

Abstract

The incidence of cystic fibrosis (CF) and the frequency of disease-causing mutations varies among different ethnic and geographic populations. The Jewish population around the world is comprised of two major ethnic groups; Ashkenazi and non-Ashkenazi. The latter is further classified according to country of origin. In this study, we analyzed the incidence of CF and the distribution of CF mutations in the general Jewish population in Israel and in most of the Jewish ethnic subgroups. The disease frequency varies considerably among the latter. Among Ashkenazi Jews, the frequency of CF is 1∶3300, which is similar to the frequency in most Caucasian populations. Among non-Ashkenazi Jews, the disease occurs at a similar frequency among Jews from Libya (1∶2700), Georgia (1∶2700), Greece and Bulgaria (1∶2400), but is rare in Jews from Yemen (1∶8800), Morocco (1∶15000), Iraq (1∶32000), and Iran (1∶39000). So far, only 12 mutations have been identified in Israeli Jews, and this enables the identification of 91% of the CF chromosomes in the entire Jewish CF population. However, in each Jewish ethnic group, the disease is caused by a different repertoire of mutations. The frequency of identified mutations is high in Ashkenazi Jews (95%), and in Jews originating from Tunisia (100%), Libya (91%), Turkey (90%), and Georgia (88%). However, a lower frequency of mutations can be identified in Moroccan (85%), Egyptian (50%), and Yemenite (0%) Jews. For genetic counseling of a Jewish individual, it is necessary to calculate the residual risk according to ethnic origin. Carrier screening of healthy Jewish individuals is currently feasible for Ashkenazi Tunisian, Libyan, Turkish, and Georgian Jews. These results provide the required information for genetic counseling of Jewish CF families and screening programs of Jewish populations worldwide.

Keywords

Cystic Fibrosis Genetic Counseling Screen Program Jewish Population Geographic Population 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1995

Authors and Affiliations

  • Eitan Kerem
    • 1
  • Yoram M. Kalman
    • 2
  • Yaacov Yahav
    • 3
  • Tzipora Shoshani
    • 2
  • Dvora Abeliovich
    • 4
  • Amir Szeinberg
    • 3
  • Joseph Rivlin
    • 5
  • Hanna Blau
    • 6
  • Asher Tal
    • 7
  • Lea Ben-Tur
    • 8
  • Chaim Springer
    • 4
  • Arie Augarten
    • 3
  • Simon Godfrey
    • 4
  • Israela Lerer
    • 4
  • David Branski
    • 1
  • Moshe Friedman
    • 3
  • Batsheva Kerem
    • 2
  1. 1.Shaare Zedek Medical CenterJerusalemIsrael
  2. 2.Department of GeneticsLife Sciences Institute, The Hebrew University JerusalemIsrael
  3. 3.Shiba Medical CenterTel AvivIsreal
  4. 4.Hadassah Medical CenterJerusalemIsrael
  5. 5.Carmel Medical CenterHaifaIsrael
  6. 6.Belinson Medical CenterPetach TikvaIsrael
  7. 7.Soroka Medical CenterBeer ShevaIsrael
  8. 8.Rambam Medical CenterHaifaIsrael

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