Molecular analysis of the most prevalent mutations of the FANCA and FANCC genes in Brazilian patients with Fanconi anaemia
Genet. mol. biol
;
28(2): 205-209, 2005. ilus, tab
Article
in English
| LILACS, BVSAM
| ID: lil-416285
RESUMO
Fanconi anaemia (FA) is a recessive autosomal disease determined by mutations in genes of at least eleven complementation groups, with distinct distributions in different populations. As far as we know, there are no reports regarding the molecular characterisation of the disease in unselected FA patients in Brazil. OBECTIVE This study aimed to investigate the most prevalent mutations of FANCA and FANCC genes in Brazilian patients with FA. METHODS:
Genomic DNA obtained from 22 racially and ethnically diverse unrelated FA patients (mean age ± SD 14.0 ± 7.8 years; 10 male, 12 female; 14 white, 8 black) was analysed by polymerase chain reaction and restriction site assays for identification of FANCA (delta3788-3790) and FANCC (delta322G, IVS4+4A -> T, W22X, L496R, R548X, Q13X, R185X, and L554P) gene mutations.RESULTS:
Mutations in FANCA and FANCC genes were identified in 6 (27.3 percent) and 14 (63.6 percent) out of 22 patients, respectively. The disease could not be attributed to the tested mutations in the two remaining patients enrolled in the study (9.1 percent). The registry of the two most prevalent gene abnormalities (delta3788-3790 and IVS4 + 4 -> T) revealed that they were present in 18.2 percent and 15.9 percent of the FA alleles, respectively. Additional FANCC gene mutations were found in the study, with the following prevalence delta322G (11.4 percent), W22X (9.1 percent), Q13X (2.3 percent), L554P (2.3 percent), and R548X (2.3 percent) of total FA alleles.CONCLUSION:
These results suggest that mutations of FANCA and FANCC genes are the most prevalent mutations among FA patients in Brazil.
Full text:
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Index:
LILACS (Americas)
Main subject:
Molecular Diagnostic Techniques
/
Fanconi Anemia Complementation Group A Protein
/
Fanconi Anemia Complementation Group C Protein
/
Fanconi Anemia
Type of study:
Diagnostic study
/
Risk factors
Limits:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
Genet. mol. biol
Journal subject:
Genetics
Year:
2005
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Centro Boldrini/BR
/
Fundação Oswaldo Cruz/BR
/
Universidade Estadual de Campinas/BR
/
Universidade Federal de São Paulo/BR
/
Universidade de Brasília/BR
/
Universidade de São Paulo/BR
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