PMID: 7541511Apr 1, 1995Paper

Homozygosity for a novel splice site mutation (2790-2 A--->G) preceding exon 15 of the CFTR gene in a cystic fibrosis patient of North-East Italian descent

Molecular and Cellular Probes
C MarigoP F Pignatti

Abstract

We have been screening a cohort of 225 chromosomes from cystic fibrosis patients for mutations in the cystic fibrosis transmembrane regulator gene using a combination of DGGE,RNA-SSCP and DNA sequencing. A novel splice site mutation was detected by multiplex DGGE in a homozygous patient. Restriction-site generating PCR (RG-PCR) analysis demonstrated that both parents carried the same mutation. The molecular haplotype was the same. All the known ancestors came from the same (Veneto) region, and no consanguinity was documented up to the sixth generation.

References

Nov 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·B S KeremJ M Rommens
Jan 11, 1984·Nucleic Acids Research·R Staden
Aug 1, 1993·Human Molecular Genetics·T DörkB Tümmler

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