A CA repeat in the first intron of the CFTR gene

Danielle S. Moulin, Annabel N. Smith, Ann Harris*

*Corresponding author for this work

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, that encompasses 250 kb of genomic DNA, cause cystic fibrosis. More than 5-10% of CF patients in most populations studied carry undefined mutations and hence intragenic CA repeats are important tools in genetic counselling. To date, polymorphic intragenic repeats have been found in introns 6a, 8 and 17b. We have identified a novel CA repeat within intron 1 of the CFTR gene that lies about 70 kb 5’ to intron 6a and so will be a useful additional diagnostic marker.

Original languageEnglish (US)
Pages (from-to)295-297
Number of pages3
JournalHuman Heredity
Volume47
Issue number5
DOIs
StatePublished - Jan 1997

Keywords

  • CA repeat CFTR

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Moulin, D. S., Smith, A. N., & Harris, A. (1997). A CA repeat in the first intron of the CFTR gene. Human Heredity, 47(5), 295-297. https://doi.org/10.1159/000154427