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Analysis of 16 cystic fibrosis mutations in Mexican patients

✍ Scribed by Villalobos-Torres, C.; Rojas-Martínez, A.; Villareal-Castellanos, E.; Cantú, J. M.; Sánchez-Anzaldo, F. J.; Saiki, R. K.; Barrera-Saldaña, H. A.

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
142 KB
Volume
69
Category
Article
ISSN
0148-7299

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✦ Synopsis

We carried out molecular analysis of 80 chromosomes from 40 unrelated Mexican patients with a diagnosis of cystic fibrosis. The study was performed in two PCR steps: a preliminary one to identify mutation ⌬F508, the most frequent cause of cystic fibrosis worldwide, and the second a reverse dot-blot with allele-specific oligonucleotide probes to detect 15 additional common mutations in the Caucasian population. A frequency of 45% for ⌬F508 was found, making it the most common in our sample of Mexican patients. Another five mutations (G542X, 3849 + 10 kb C→T, N1303K, S549N, and 621 + 1 G→T) were detected, and these accounted for 11.25%. The remaining mutations (43.75%) were undetectable with the methodology used.

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