| Autor: |
Villalobos-Torres, C., Rojas-Martínez, A., Villareal-Castellanos, E., Cantú, J.M., Sánchez-Anzaldo, F.J., Saiki, R.K., Barrera-Saldaña, H.A. |
| Zdroj: |
American Journal of Medical Genetics. Part A; 14 April 1997, Vol. 69 Issue: 4 p380-382, 3p |
| Abstrakt: |
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 ΔF508, 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 ΔF508 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. Am. J. Med. Genet. 69:380382, 1997. © 1997 Wiley-Liss, Inc. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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