Purpose: To analyze the frequency of the delta F508 (deltaF508) deletion mutation in 108 unrelated cystic fibrosis patients and compare the results with the previously reported data for Brazilian patients. Cystic fibrosis is the leading cause of genetic disease in Caucasians, and the deltaF508 deletion is the most common mutation associated with the disease.
Method: The frequency of the deltaF508 mutation was assessed by means of a polymerase chain reaction (PCR) followed by detection in 8% silver-stained polyacrylamide gels.
Results: Twenty-three of 108 patients (21.3%) were homozygous for the deltaF508 deletion, 50 were heterozygous (46.3%), and the remaining 35 (32.4%) were non-carriers. In terms of alleles, there were 96 mutated (96/216 or 44.45%) and 120 wild-type ones (120/216 or 55.5%).
Conclusion: The 44.45% of affected alleles that were found is higher than the 33% first described in 1993, but slightly lower than the 48% recently reported. Moreover, our data corroborated the idea that the frequency of the deltaF508 mutation is lower in Brazil in comparison to that found in studies carried out in Europe and North American (circa 70.0%), probably due to increased racial miscegenation. These findings must be taken into account before any genetic screening of the population is proposed in Brazil.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1590/s1807-59322005000200009 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Direct healthcare costs in the first 2 years of life: A comparison of screened and clinically diagnosed children with cystic fibrosis - The Irish comparative outcomes study of CF (ICOS).
J Cyst Fibros
September 2024
School of Public Health, Physiotherapy and Sports Science, Unversity College Dublin, Belfield, Dublin 4, Ireland. Electronic address:
Background: In July 2011, Cystic Fibrosis (CF) was added to the Newborn Bloodspot Screening Programme in Ireland. The Irish Comparative Outcomes Study (ICOS) is a historical cohort study established to compare outcomes between clinically-detected and screen-detected children with CF. Here we present the results of economic analysis comparing direct healthcare costs in the first 2 years of life of children born between mid-2008 and mid-2016, in the pre-CF transmembrane conductance regulator modulator era.
View Article and Find Full Text PDFExploring the diversity of gene mutations in cystic fibrosis individuals of South Asia.
J Asthma
June 2024
Centre for Applied Molecular Biology, University of the Punjab, Lahore, Pakistan.
Objective: Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the gene. This study aimed to identify the spectrum of variants reported in individuals with CF from South Asia (ISA).
Data Sources And Study Selection: We conducted a PubMed search for variants reported in ISA.
Pancreatic, hepatobiliary, and gastrointestinal manifestations of children with cystic fibrosis: A 10-year experience from a tertiary care center in southern India.
Indian J Gastroenterol
June 2022
Department of Biostatistics, Christian Medical College, Vellore, 632 004, India.
Objectives: To describe the demography and spectrum of pancreatic, hepatobiliary, and gastrointestinal (GI) manifestations in children with cystic fibrosis (CF) from the Indian subcontinent.
Methods: In this retrospective study, relevant information from the database of all children with CF below 18 years of age was collected and analyzed.
Results: Among the total 109 children, 58 (53%) were from the southern states of India.
Prevalence of CBAVD in azoospermic men carrying pathogenic CFTR mutations - Evaluated in a cohort of 639 non-vasectomized azoospermic men.
Andrology
March 2021
Department of Pathology, Odense University Hospital, Odense, Denmark.
Background: Men with obstructive azoospermia (OA) due to impaired development of the genital tract often carry at least one Cystic Fibrosis Transmembrane Conductance Regulator CFTR mutation.
Objective: To determine the frequency of Congenital Bilateral Absence of Vas deferens (CBAVD) in men with azoospermia carrying CFTR gene mutations.
Materials And Methods: Non-vasectomized men with azoospermia referred to our andrological center were consecutively included.
Haplotype analysis of the CFTR gene on normal and mutant CFTR genes.
Mutat Res
December 2020
Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ontario, Canada.
Background: Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are responsible for Cystic Fibrosis (CF) disease. Since the distribution of polymorphisms varies among populations, a comparison between the frequency of CFTR polymorphisms in patients and healthy population may further identify their role in CF disease. The results obtained from this research may facilitate the prediction of disease phenotype in prenatal diagnosis or newborn screening program as well as determine the possible associations between haplotypes and specific mutations.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!