The 3120 +1G→A splicing mutation in CFTR is common in Brazilian cystic fibrosis patients

Human Biology

Volumn 73, Issue 3, 2001, Pages 403-409

  Cabello, G M K ^a   Cabello, P H ^a   Llerena J , Jr ^a   Fernandes, O ^a   Harris, A ^a  

^a INSTITUTO OSWALDO CRUZ   (Brazil)

Author keywords

Brazilian population; Cystic fibrosis; Splicing mutation; SSCP

Indexed keywords

BRAZIL; CYSTIC FIBROSIS; DNA SPLICING; EXON; GENE MUTATION; GENETIC SCREENING; HOMOZYGOSITY; HUMAN GENETICS; INTRON; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; TRANSMEMBRANE CONDUCTANCE REGULATOR; URBAN AREA;

CFTR PROTEIN, HUMAN; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; BRAZIL; CYSTIC FIBROSIS; GENE FREQUENCY; GENETICS; HUMAN; MUTATION; SINGLE STRAND CONFORMATION POLYMORPHISM; STATISTICAL MODEL;

BRAZIL; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENE FREQUENCY; HUMANS; LIKELIHOOD FUNCTIONS; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0034743399     PISSN: 00187143     EISSN: None     Source Type: Journal    
DOI: 10.1353/hub.2001.0031     Document Type: Article

References (29)

1. Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from northeastern Italy: Identification of 90% of the mutations
2. Cystic fibrosis: Low frequency of DF508 mutation in 2 population samples from Rio de Janeiro, Brazil
3. GENIOC: Sistema para análises de dados de genética
4. First report of CFTR mutations in black cystic fibrosis patients of southern African origin
5. High heterogeneity for cystic fibrosis in Spanish families: 75 Mutations account for 90% of chromosomes
6. Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 Mutations account for only 78% of CF chromosomes
7. Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 Different mutations account for 91.2% of the mutant alleles in southern France
8. Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis
9. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations
10. Gradient of distribution in Europe of the major CF mutation and of its associated haplotype
11. Restriction site generating polymerase-chain reaction (RG-PCR) for detection of hidden genetic variation: Application to the study of some common CF mutations
12. Mutation characterization of CFTR gene in 206 Northern Irish CF families: Thirty mutations, including two novels, account for 94% of CF chromosomes
13. Mutation analysis of 10 exons of the CFTR gene in Greek cystic fibrosis patients: Characterization of 74.5% of CF alleles including 1 novel mutation
14. Identification of the cystic fibrosis gene: Genetic analysis
15. A simple model for the estimation of congenital malformation frequency in racially mixed populations
16. Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%
17. A simple salting-out procedure for extracting DNA from human nucleated cells
18. Use of PCR for the determination of the frequency of the F508 mutation in Brazilian cystic fibrosis patients
19. Detection of polymorphisms of human DNA by gel electrophoresis as single-stranded conformation polymorphisms
20. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
21. Cystic fibrosis carrier frequencies in populations of African origin
22. Molecular characterisation of cystic fibrosis patients in the state of São Paulo (Brazil)
23. DNA analysis of cystic fibrosis in Brazil by direct PCR amplification from Guthrie cards
24. Rapid non-radioactive detection of the major cystic fibrosis mutation
25. Identification of rare and novel mutations in the CFTR genes of CF patients in southern England
26. Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations
27. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene