skip to main content

Title: Analysis of 16 cystic fibrosis mutations in Mexican patients

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 AF508, 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 AF508 was found, making it the most common in our sample of Mexican patients. Another five mutations (G542X, 3849 + 10 kb C{r_arrow}T, N1303K, S549N, and 621 + 1 G{r_arrow}T) were detected, and these accounted for 11.25%. The remaining mutations (43.75%) were undetectable with the methodology used. 20 refs., 2 tabs.
Authors:
; ;  [1]
  1. Universidad Autonoma de Nuevo Leon (Mexico) [and others
Publication Date:
OSTI Identifier:
539211
Resource Type:
Journal Article
Resource Relation:
Journal Name: American Journal of Medical Genetics; Journal Volume: 69; Journal Issue: 4; Other Information: PBD: 14 Apr 1997
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HEREDITARY DISEASES; DIAGNOSIS; PATIENTS; GENOTYPE; PHENOTYPE; HUMAN CHROMOSOMES; GENETIC MAPPING; GENE MUTATIONS; DETECTION; MEXICO; GENES; MUTATION FREQUENCY; POLYMERASE CHAIN REACTION; OLIGONUCLEOTIDES; PROBES; CODONS