Analysis of 16 cystic fibrosis mutations in Mexican patients

Villalobos-Torres, C.; Rojas-Martı́nez, Augusto; Villareal-Castellanos, E.; Cantú, J. M.; Sánchez-Anzaldo, F. J.; Saiki, Randall K.; Barrera-Saldaña, Hugo A.

doi:10.1002/(sici)1096-8628(19970414)69:4<380::aid-ajmg8>3.0.co;2-p

Cited by 9 publications

(3 citation statements)

References 16 publications

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“…These results are similar to those of another study performed in northeastern Mexico (Villalobos et al 1997), where 16 different CF mutations were screened in a sample of 40 patients and 56.3% CF chromosomes were characterized. We found that the ∆F508 mutation frequency in our study population was very low (40.7%) and similar to the 45% (Villalobos et al 1997) and 34.4% (Flores et al 1997) found in other regions of Mexico. The G542X mutation has a frequency higher (6.1%) than that reported to the CFGAC, but similar to Spanish patients (Casals et al 1997).…”

Section: Discussionmentioning

confidence: 90%

“…This first part of the study enabled us to characterize only 56.66% of the CF chromosomes in the Mexican population. These results are similar to those of another study performed in northeastern Mexico (Villalobos et al 1997), where 16 different CF mutations were screened in a sample of 40 patients and 56.3% CF chromosomes were characterized. We found that the ∆F508 mutation frequency in our study population was very low (40.7%) and similar to the 45% (Villalobos et al 1997) and 34.4% (Flores et al 1997) found in other regions of Mexico.…”

Section: Discussionmentioning

confidence: 99%

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Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-1G→A)

Orozco¹,

Velázquez²,

Zielenski

et al. 2000

Human Genetics

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We have analyzed 97 CF unrelated Mexican families for mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Our initial screening for 12 selected CFTR mutations led to mutation detection in 56.66% of the tested chromosomes. In patients with at least one unknown mutation after preliminary screening, an extensive analysis of the CFTR gene by single stranded conformation polymorphism (SSCP) or by multiplex heteroduplex (mHET) analysis was performed. A total of 34 different mutations representing 74.58% of the CF chromosomes were identified, including five novel CFTR mutations: W1098C, P750L, 846delT, 4160insGGGG and 297-1G-->A. The level of detection of the CF mutations in Mexico is still lower than that observed in other populations with a relatively low frequency of the deltaF508 mutation, mainly from southern Europe. The CFTR gene analysis described here clearly demonstrated the high heterogeneity of our CF population, which could be explained by the complex ethnic composition of the Mexican population, in particular by the strong impact of the genetic pool from southern European countries.

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Section: Discussionmentioning

confidence: 90%

Section: Discussionmentioning

confidence: 99%

Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-1G→A)

Orozco¹,

Velázquez²,

Zielenski

et al. 2000

Human Genetics

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“…In this regard, this work may be comparable with modifier genes studies performed in those countries. Two previous CFTR mutation reports in the Mexican population showed ΔF508 frequencies of 40.72% [25], 45% [26] and 44.6% [27]. Differences could be explained by the clinical criteria, geographic origin and the analytical methods available at that time.…”

Section: Discussionmentioning

confidence: 91%

The Tumor Necrosis Factor α (-308 A/G) Polymorphism Is Associated with Cystic Fibrosis in Mexican Patients

et al. 2014

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Environmental and genetic factors may modify or contribute to the phenotypic differences observed in multigenic and monogenic diseases, such as cystic fibrosis (CF). An analysis of modifier genes can be helpful for estimating patient prognosis and directing preventive care. The aim of this study is to determine the association between seven genetic variants of four modifier genes and CF by comparing their corresponding allelic and genotypic frequencies in CF patients (n = 81) and control subjects (n = 104). Genetic variants of MBL2 exon 1 (A, B, C and D), the IL-8 promoter (−251 A/T), the TNFα promoter (TNF1/TNF2), and SERPINA1 (PI*Z and PI*S) were tested in CF patients and control subjects from northeastern Mexico by PCR-RFLP.ResultsThe TNF2 allele (P = 0.012, OR 3.43, 95% CI 1.25–9.38) was significantly associated with CF under the dominant and additive models but was not associated with CF under the recessive model. This association remained statistically significant after adjusting for multiple tests using the Bonferroni correction (P = 0.0482). The other tested variants and genotypes did not show any association with the disease.ConclusionAn analysis of seven genetic variants of four modifier genes showed that one variant, the TNF2 allele, appears to be significantly associated with CF in Mexican patients.

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CFTR mutations in three Latin American countries

et al. 2000

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We analyzed 192 cystic fibrosis (CF) alleles in three Latin American countries: Mexico, Colombia, and Venezuela. Mutation screening was performed by polymerase chain reaction (PCR) and a reverse dot blot detection kit that enables determination of 16 of the most common CF mutations worldwide. Mutations were detected in 47.9% of the screened CF alleles. The most prevalent CF allele was DeltaF508 (39. 6%). The remaining 16 non-DeltaF508 detectable mutations represented 8.3% of the CF alleles. Among them, the G542X, N1303K, and 3849+10kb C>T were the most common. Although the frequency of DeltaF508 described here is lower than that reported for Caucasian populations, including in Spain, it is remarkable that mutation prevalences found in this study resemble those observed in Spain. Two of these mutations, G542X and 3849+10kb C>T, that were relevant in this analysis, have a particularly high incidence in Spanish communities. The low frequency of DeltaF508 described here may be explained by the Amerindian, Caucasian, and Black admixture that occurred in Latin America after the discovery of the New World, and also by the probable occurrence of mutations contributed by the original natives, which were undetectable in this analysis.

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Analysis of 16 cystic fibrosis mutations in Mexican patients

Cited by 9 publications

References 16 publications

Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-1G→A)

Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-1G→A)

The Tumor Necrosis Factor α (-308 A/G) Polymorphism Is Associated with Cystic Fibrosis in Mexican Patients

CFTR mutations in three Latin American countries

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