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Heterozygote Screening for Cystic Fibrosis

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Antenatal Diagnosis of Fetal Abnormalities

Abstract

Cystic fibrosis (CF) is usually regarded as the most common life-threatening genetic disorder in populations of north-European ancestry. It is inherited as an autosomal recessive trait and there is now abundant evidence that all cases of CF are the result of either homozygosity or compound heterozygosity or mutant alleles at a single genetic locus. The birth prevalence in the UK is estimated to lie between 1 in 2000 and 1 in 2500, and the heterozygote frequency is thus between 1 in 22 and 1 in 25. About 300 children with CF are born in the UK each year, and more than 2 million of the British population are symptomless carriers of the CF gene.

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© 1991 Springer-Verlag London Limited

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Brock, D.J.H., Mennie, M.E., McIntosh, I., Jones, C., Shrimpton, A.E. (1991). Heterozygote Screening for Cystic Fibrosis. In: Drife, J.O., Donnai, D. (eds) Antenatal Diagnosis of Fetal Abnormalities. Springer, London. https://doi.org/10.1007/978-1-4471-1854-1_5

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  • DOI: https://doi.org/10.1007/978-1-4471-1854-1_5

  • Publisher Name: Springer, London

  • Print ISBN: 978-1-4471-1856-5

  • Online ISBN: 978-1-4471-1854-1

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