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. 1992 Feb;29(2):131–133. doi: 10.1136/jmg.29.2.131

Cystic fibrosis mutations delta F508 and G542X in Jewish patients.

I Lerer 1, M Sagi 1, G R Cutting 1, D Abeliovich 1
PMCID: PMC1015854  PMID: 1377276

Abstract

We have screened our CF patients for mutations in exons 10 and 11 of the CFTR gene. Two mutations, delta F508 and G542X, have been found in 66 Jewish CF patients. The average frequency of the delta F508 mutation in the Jewish population is 33.8%. The G542X mutation accounts for 13% of the Ashkenazi CF mutations and has been found in three out of seven chromosomes of Jewish patients from Turkey (probably descended from Ashkenazi immigrants). The G542X mutation was not found in any of the other non-Ashkenazi patients. All the G542X bearing chromosomes have the same haplotype. Based on these observations it is concluded that the G542X mutation was introduced into the Jewish people after the split into Ashkenazi and non-Ashkenazi.

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Selected References

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  1. Balassopoulou A., Loukopoulos D., Kollia P., Devoto M., Adam G., Arvanitakis S., Hadjisevastou H. Cystic fibrosis in Greece: typing with DNA probes and identification of the common molecular defect. Hum Genet. 1990 Sep;85(4):393–394. doi: 10.1007/BF02428270. [DOI] [PubMed] [Google Scholar]
  2. Cremonesi L., Ruocco L., Seia M., Russo S., Giunta A., Ronchetto P., Fenu L., Romano L., Devoto M., Romeo G. Frequency of the delta F508 mutation in a sample of 175 Italian cystic fibrosis patients. Hum Genet. 1990 Sep;85(4):400–402. doi: 10.1007/BF02428276. [DOI] [PubMed] [Google Scholar]
  3. Cutting G. R., Kasch L. M., Rosenstein B. J., Zielenski J., Tsui L. C., Antonarakis S. E., Kazazian H. H., Jr A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature. 1990 Jul 26;346(6282):366–369. doi: 10.1038/346366a0. [DOI] [PubMed] [Google Scholar]
  4. Feldman G. L., Williamson R., Beaudet A. L., O'Brien W. E. Prenatal diagnosis of cystic fibrosis by DNA amplification for detection of KM-19 polymorphism. Lancet. 1988 Jul 9;2(8602):102–102. doi: 10.1016/s0140-6736(88)90030-x. [DOI] [PubMed] [Google Scholar]
  5. Kerem B. S., Zielenski J., Markiewicz D., Bozon D., Gazit E., Yahav J., Kennedy D., Riordan J. R., Collins F. S., Rommens J. M. Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci U S A. 1990 Nov;87(21):8447–8451. doi: 10.1073/pnas.87.21.8447. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Kerem B., Rommens J. M., Buchanan J. A., Markiewicz D., Cox T. K., Chakravarti A., Buchwald M., Tsui L. C. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989 Sep 8;245(4922):1073–1080. doi: 10.1126/science.2570460. [DOI] [PubMed] [Google Scholar]
  7. Lemna W. K., Feldman G. L., Kerem B., Fernbach S. D., Zevkovich E. P., O'Brien W. E., Riordan J. R., Collins F. S., Tsui L. C., Beaudet A. L. Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis. N Engl J Med. 1990 Feb 1;322(5):291–296. doi: 10.1056/NEJM199002013220503. [DOI] [PubMed] [Google Scholar]
  8. Lerer I., Cohen S., Chemke M., Sanilevich A., Rivlin J., Golan A., Yahav J., Friedman A., Abeliovich D. The frequency of the delta F508 mutation on cystic fibrosis chromosomes in Israeli families: correlation to CF haplotypes in Jewish communities and Arabs. Hum Genet. 1990 Sep;85(4):416–417. doi: 10.1007/BF02428288. [DOI] [PubMed] [Google Scholar]
  9. McIntosh I., Curtis A., Lorenzo M. L., Keston M., Gilfillan A. J., Morris G., Brock D. J. The haplotype distribution of the delta F508 mutation in cystic fibrosis families in Scotland. Hum Genet. 1990 Sep;85(4):419–420. doi: 10.1007/BF02428290. [DOI] [PubMed] [Google Scholar]
  10. Riordan J. R., Rommens J. M., Kerem B., Alon N., Rozmahel R., Grzelczak Z., Zielenski J., Lok S., Plavsic N., Chou J. L. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989 Sep 8;245(4922):1066–1073. doi: 10.1126/science.2475911. [DOI] [PubMed] [Google Scholar]
  11. Rosenbloom C. L., Kerem B. S., Rommens J. M., Tsui L. C., Wainwright B., Williamson R., O'Brien W. E., Beaudet A. L. DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis. Nucleic Acids Res. 1989 Sep 12;17(17):7117–7117. doi: 10.1093/nar/17.17.7117. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Santis G., Osborne L., Knight R., Ramsay M., Williamson R., Hodson M. Cystic fibrosis haplotype association and the delta F508 mutation in adult British CF patients. Hum Genet. 1990 Sep;85(4):424–425. doi: 10.1007/BF02428295. [DOI] [PubMed] [Google Scholar]
  13. Tsui L. C. Population analysis of the major mutation in cystic fibrosis. Hum Genet. 1990 Sep;85(4):391–392. doi: 10.1007/BF02428268. [DOI] [PubMed] [Google Scholar]
  14. Vidaud M., Fanen P., Martin J., Ghanem N., Nicolas S., Goossens M. Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis. Hum Genet. 1990 Sep;85(4):446–449. doi: 10.1007/BF02428305. [DOI] [PubMed] [Google Scholar]
  15. Voss R., Ben-Simon E., Avital A., Godfrey S., Zlotogora J., Dagan J., Tikochinski Y., Hillel J. Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans? Am J Hum Genet. 1989 Sep;45(3):373–380. [PMC free article] [PubMed] [Google Scholar]

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