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Title: Analysis of 16 cystic fibrosis mutations in Mexican patients

Abstract

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
Journal Name:
American Journal of Medical Genetics
Additional Journal Information:
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

Citation Formats

Villalobos-Torres, C, Rojas-Martinez, A, and Barrera-Saldana, H A. Analysis of 16 cystic fibrosis mutations in Mexican patients. United States: N. p., 1997. Web. doi:10.1002/(SICI)1096-8628(19970414)69:4<380::AID-AJMG8>3.3.CO;2-8.
Villalobos-Torres, C, Rojas-Martinez, A, & Barrera-Saldana, H A. Analysis of 16 cystic fibrosis mutations in Mexican patients. United States. https://doi.org/10.1002/(SICI)1096-8628(19970414)69:4<380::AID-AJMG8>3.3.CO;2-8
Villalobos-Torres, C, Rojas-Martinez, A, and Barrera-Saldana, H A. 1997. "Analysis of 16 cystic fibrosis mutations in Mexican patients". United States. https://doi.org/10.1002/(SICI)1096-8628(19970414)69:4<380::AID-AJMG8>3.3.CO;2-8.
@article{osti_539211,
title = {Analysis of 16 cystic fibrosis mutations in Mexican patients},
author = {Villalobos-Torres, C and Rojas-Martinez, A and Barrera-Saldana, H A},
abstractNote = {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.},
doi = {10.1002/(SICI)1096-8628(19970414)69:4<380::AID-AJMG8>3.3.CO;2-8},
url = {https://www.osti.gov/biblio/539211}, journal = {American Journal of Medical Genetics},
number = 4,
volume = 69,
place = {United States},
year = {Mon Apr 14 00:00:00 EDT 1997},
month = {Mon Apr 14 00:00:00 EDT 1997}
}