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Screening for cystic fibrosis mutations in Southern France: Identification of a frameshift mutation and two missense variations

โœ Scribed by Mireille Claustres; Bernard Gerrard; Paule Kjellberg; Marie Desgeorges; Jacques Demaille; Michael Dean

Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
366 KB
Volume
1
Category
Article
ISSN
1059-7794

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โœฆ Synopsis

Communicated by Garry R. Cutting

In the search for mutations in the cystic fibrosis gene in patients from the Mediterranean area, we have analysed exons 4,9, 10, 19, and 21 by the single-strand conformation polymorphism (SSCP) technique in 50 patients with at least one non-AF508 chromosome. Ten samples demonstrated a shifted band, four in exon 19 and six in exon 21. Sequencing of the PCR fragments has led to the identification of three new sequence alterations, two in exon 19 (3737delA and I1234V), and one in exon 21 (N1303H). We also analysed the frequency of two known intronic polymorphisms in front of exon 19 (C to A change at nucleotide 3601-65) and exon 21 (G to A change at position 4006-200).

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