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Screening of CFTR mutations in an isolated population: identification of carriers and patients.

Publication ,  Journal Article
Chiba-Falek, O; Nissim-Rafinia, M; Argaman, Z; Genem, A; Moran, I; Kerem, E; Kerem, B
Published in: Eur J Hum Genet
1998

One important application of the identification of disease-causing mutations is carrier screening in the general population. Such a project requires a simple accurate test by which a large proportion of the mutations can be identified. This study describes screening for CFTR mutations in an isolated Israeli Arab village. Two mutations, G85E and delta F508, accounted for all the CF alleles of these patients. The screening program tested for these two mutations, as well as the 5T allele, which has recently been shown to down-regulate the CFTR expression and cause variable phenotype. The screened population comprised 497 students from one school, which all the children of the village attend. The results revealed high carrier frequency, 8.5%, for the two CFTR mutations, G85E and delta F508, and a carrier frequency of 12% for the 5T allele. Two compound heterozygotes for the CFTR mutations, delta F508/G85E and G85E/5T, were identified. Both of these students had not been diagnosed previously as having CF since their disease presentation was not typical of CF. The CF incidence in this village was found to be extremely high, 1:72 life births. The screening results were reported to the physicians of the village to be used, upon request, for genetic counselling. This study emphasizes the importance of such programs for the identification of non-classical patients and for carrier detection.

Duke Scholars

Published In

Eur J Hum Genet

DOI

ISSN

1018-4813

Publication Date

1998

Volume

6

Issue

2

Start / End Page

181 / 184

Location

England

Related Subject Headings

  • Vas Deferens
  • Mutation
  • Male
  • Israel
  • Humans
  • Genetics & Heredity
  • Genetic Testing
  • Genetic Carrier Screening
  • Gene Frequency
  • DNA Mutational Analysis
 

Citation

APA
Chicago
ICMJE
MLA
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Chiba-Falek, O., Nissim-Rafinia, M., Argaman, Z., Genem, A., Moran, I., Kerem, E., & Kerem, B. (1998). Screening of CFTR mutations in an isolated population: identification of carriers and patients. Eur J Hum Genet, 6(2), 181–184. https://doi.org/10.1038/sj.ejhg.5200174
Chiba-Falek, O., M. Nissim-Rafinia, Z. Argaman, A. Genem, I. Moran, E. Kerem, and B. Kerem. “Screening of CFTR mutations in an isolated population: identification of carriers and patients.Eur J Hum Genet 6, no. 2 (1998): 181–84. https://doi.org/10.1038/sj.ejhg.5200174.
Chiba-Falek O, Nissim-Rafinia M, Argaman Z, Genem A, Moran I, Kerem E, et al. Screening of CFTR mutations in an isolated population: identification of carriers and patients. Eur J Hum Genet. 1998;6(2):181–4.
Chiba-Falek, O., et al. “Screening of CFTR mutations in an isolated population: identification of carriers and patients.Eur J Hum Genet, vol. 6, no. 2, 1998, pp. 181–84. Pubmed, doi:10.1038/sj.ejhg.5200174.
Chiba-Falek O, Nissim-Rafinia M, Argaman Z, Genem A, Moran I, Kerem E, Kerem B. Screening of CFTR mutations in an isolated population: identification of carriers and patients. Eur J Hum Genet. 1998;6(2):181–184.

Published In

Eur J Hum Genet

DOI

ISSN

1018-4813

Publication Date

1998

Volume

6

Issue

2

Start / End Page

181 / 184

Location

England

Related Subject Headings

  • Vas Deferens
  • Mutation
  • Male
  • Israel
  • Humans
  • Genetics & Heredity
  • Genetic Testing
  • Genetic Carrier Screening
  • Gene Frequency
  • DNA Mutational Analysis