Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

CFTR mutations in three Latin American countries.

C M Restrepo1, L Pineda, A Rojas-Martínez

  • 1Unidad de Genética, Instituto de Ciencias Básicas, Facultad de Medicina, Universidad Colegio Mayor de Nuestra Señora del Rosario, Bogotá, Colombia.

American Journal of Medical Genetics
|April 15, 2000
PubMed
Summary

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

A rapid protocol for purification of total RNA for tissues collected from pigs at a slaughterhouse.

Genetics and molecular research : GMR·2011
Same author

Guidelines for the treatment of acute ischaemic stroke.

Neurologia (Barcelona, Spain)·2011
Same author

Analysing the effect of public health campaigns on reducing excess weight: a modelling approach for the Spanish Autonomous Region of the Community of Valencia.

Evaluation and program planning·2011
Same author

[Toward the appropriate use of teleradiology].

Radiologia·2011
Same author

Guidelines for the preventive treatment of ischaemic stroke and TIA (II). Recommendations according to aetiological sub-type.

Neurologia (Barcelona, Spain)·2011
Same author

Emergence of ageing-related changes in insulin secretion by pancreatic islets of male rat offspring of mothers fed a low-protein diet.

The British journal of nutrition·2011

Cystic fibrosis (CF) allele analysis in Latin America revealed common mutations, with DeltaF508 being most prevalent. Findings show similarities to Spanish populations, possibly due to historical admixture.

Area of Science:

  • Genetics
  • Molecular Biology
  • Population Studies

Background:

  • Cystic Fibrosis (CF) is a genetic disorder with diverse mutations globally.
  • Understanding CF mutation prevalence in Latin America is crucial for diagnosis and treatment.

Purpose of the Study:

  • To analyze the frequency and spectrum of common cystic fibrosis mutations in Mexico, Colombia, and Venezuela.
  • To compare Latin American CF mutation profiles with those in other populations, particularly Spain.

Main Methods:

  • Screening of 192 cystic fibrosis alleles using polymerase chain reaction (PCR) and a reverse dot blot detection kit.
  • Identification of 16 common CF mutations worldwide.

Main Results:

  • Mutations were detected in 47.9% of screened alleles.

Related Experiment Videos

  • The most common mutation was DeltaF508 (39.6%), followed by G542X, N1303K, and 3849+10kb C>T.
  • The prevalence of DeltaF508 was lower than in Caucasian populations, but overall mutation profiles resembled those in Spain.

    • Conclusions:

    • Latin American CF mutation patterns show a notable resemblance to Spanish populations.
    • The observed differences in DeltaF508 frequency may be attributed to Amerindian, Caucasian, and Black admixture, and potentially undetected Native American mutations.