Dynamic Modification Strategy of the Israeli Carrier Screening Protocol: Inclusion of the Oriental Jewish Group to the Cystic Fibrosis Panel Orit Reish, MD1,2, Zvi U
ARTICLE Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel Orit Reish, MD1,2, Zvi U. Borochowitz, MD3, Vardit Adir, PhD3, Mordechai Shohat, MD2,4, Mazal Karpati, PhD2,5, Atalia Shtorch, PhD6, Avi Orr-Urtreger, MD, PhD2,7, Yuval Yaron, MD2,7, Stavit Shalev, MD8, Fuad Fares, PhD9, Ruth Gershoni-Baruch, MD10, Tzipora C. Falik-Zaccai, MD11, and Daphne Chapman-Shimshoni, PhD1 Purpose: A retrospective population study was conducted to determine he different Jewish ethnic groups were isolated from the surrounding non-Jewish populations as a result of religious the carrier frequencies of recently identified mutations in Oriental T restrictions and cultural differences, and from each other by Jewish cystic fibrosis patients. Methods: Data were collected from 10 geographical boundaries.1–3 Thus, their respective genetic loads medical centers that screened the following mutations: two splice site differ, except for more ancient founder mutations common in all Ͼ ϩ mutations—3121-1G A and 2751 1insT—and one nonsense muta- Jews that were acquired before the communities dispersed.2 tion—the Y1092X in Iraqi Jews. One missense mutation, I1234V, was With the establishment of the State of Israel in 1948, many of screened in Yemenite Jews. Results: A total of 2499 Iraqi Jews were these Jews migrated back to Israel. Both the mutations charac- tested for one, two, or all three mutations. The 3121-1GϾA, Y1092X, teristic to the specific ethnic groups and the common Jewish and 2751 ϩ 1insT mutations had a carrier frequency of 1:68.5, 1:435, mutations created the basis for the ethnic-specific screens of- and 0, respectively.
[Show full text]