Literature DB >> 8326494

Frequency of delta F508 in a Mexican sample of cystic fibrosis patients.

L Orozco1, M Salcedo, J L Lezana, M Chávez, H Valdez, M Moreno, A Carnevale.   

Abstract

This paper reports the frequency of the delta F508 mutation in a cohort of 50 Mexican patients with cystic fibrosis (CF). The mutation was detected by PCR mediated site directed mutagenesis. delta F508 was found in 39% of CF chromosomes, a frequency lower than that reported in Argentina and Spain. The high rate of CF cases who die undiagnosed, the ethnic origin of Mexican populations, and the limited number of cases studied could account for the low frequency of the delta F508 mutation found in this preliminary report.

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Year:  1993        PMID: 8326494      PMCID: PMC1016425          DOI: 10.1136/jmg.30.6.501

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  7 in total

1.  Gene frequencies and admixture estimates in four Mexican urban centers.

Authors:  R Lisker; E Ramirez; R P Briceño; J Granados; V Babinsky
Journal:  Hum Biol       Date:  1990-12       Impact factor: 0.553

2.  The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.

Authors:  P Gasparini; V Nunes; A Savoia; M Dognini; N Morral; A Gaona; A Bonizzato; M Chillon; F Sangiuolo; G Novelli
Journal:  Genomics       Date:  1991-05       Impact factor: 5.736

3.  Gene frequencies and admixture estimates in a Mexico City population.

Authors:  R Lisker; R Perez-Briceño; J Granados; V Babinsky; J de Rubens; S Armendares; L Buentello
Journal:  Am J Phys Anthropol       Date:  1986-10       Impact factor: 2.868

4.  Cystic fibrosis deletion mutation detected by PCR-mediated site-directed mutagenesis.

Authors:  K J Friedman; W E Highsmith; T W Prior; T R Perry; L M Silverman
Journal:  Clin Chem       Date:  1990-04       Impact factor: 8.327

5.  Modification of enzymatically amplified DNA for the detection of point mutations.

Authors:  A Haliassos; J C Chomel; L Tesson; M Baudis; J Kruh; J C Kaplan; A Kitzis
Journal:  Nucleic Acids Res       Date:  1989-05-11       Impact factor: 16.971

6.  Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

Authors:  J R Riordan; J M Rommens; B Kerem; N Alon; R Rozmahel; Z Grzelczak; J Zielenski; S Lok; N Plavsic; J L Chou
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

7.  The frequency and economic burden of genetic disease in a pediatric hospital in Mexico City.

Authors:  A Carnevale; M Hernández; R Reyes; F Paz; C Sosa
Journal:  Am J Med Genet       Date:  1985-04
  7 in total

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