| Full text | |
| Author(s): |
Furgeri, Daniela Tenorio
[1]
;
Lima Marson, Fernando Augusto
[2, 1]
;
Araujo Correia, Cyntia Arivabeni
[1]
;
Ribeiro, Jose Dirceu
[2]
;
Bertuzzo, Carmen Silvia
[1]
Total Authors: 5
|
| Affiliation: | [1] Univ Estadual Campinas, Sch Med Sci, Dept Med Genet, BR-13081970 Campinas, SP - Brazil
[2] Univ Estadual Campinas, Sch Med Sci, Dept Pediat, BR-13081970 Campinas, SP - Brazil
Total Affiliations: 2
|
| Document type: | Journal article |
| Source: | Gene; v. 641, p. 137-143, JAN 30 2018. |
| Web of Science Citations: | 0 |
| Abstract | |
Introduction: Nearly 2000 mutations in the cystic fibrosis transmembrane regulator (CFTR) gene have been reported. The F508de1 mutation occurs in approximately 50-65% of patients with cystic fibrosis (CF). However, molecular diagnosis is not always possible. Therefore, silent polymorphisms can be used to label the mutant allele in households of patients with CF. Objective: To verify the haplotypes of four polymorphisms at the CFTR locus in households of patients with CF for pre-fertilization, pre-implantation, and prenatal indirect mutation diagnosis to provide better genetic counseling for families and patients with CF and to associate the genotypes/haplotypes with the F508del mutation screening. Methods: GATT polymorphism analysis was performed using direct polymerase chain reaction amplification, and the MP6-D9, TUB09 and TUB18 polymorphism analyses were performed using restriction fragment length polymorphism. Results: Nine haplotypes were found in 37 CFTR alleles, and of those, 24 were linked with the F508de1 mutation and 13 with other CFTR mutations. The 6 (GATT), C (MP6-D9), G (TUB09), and C (TUB18) haplotypes showed the highest prevalence (48%) of the mutant CFTR allele and were linked to the F508de1 mutation (64%). In 43% of households analyzed, at least one informative polymorphism can be used for the indirect diagnostic test. Conclusion: CFTR polymorphisms are genetic markers that are useful for identifying the mutant CFTR alleles in households of patients with CF when it is not possible to establish the complete CFTR genotype. Moreover, the polymorphisms can be used for indirect CFTR mutation identification in cases of pre-fertilization, pre-implantation and prenatal analysis. (AU) | |
| FAPESP's process: | 11/12939-4 - Association between polymorphisms in modifier genes in children and adolescent with allergic and non-allergic: mild, moderate and severe asthma |
| Grantee: | Fernando Augusto de Lima Marson |
| Support type: | Scholarships in Brazil - Doctorate |
| FAPESP's process: | 15/12858-5 - Identification of prevalent mutations and clinical and functional characterization of children and adults with primary ciliary dyskinesia |
| Grantee: | Fernando Augusto de Lima Marson |
| Support type: | Scholarships in Brazil - Post-Doctorate |
| FAPESP's process: | 15/12183-8 - Identification of prevalent mutations and clinical and functional characterization of children and adults with primary ciliary dyskinesia |
| Grantee: | Jose Dirceu Ribeiro |
| Support type: | Regular Research Grants |
| FAPESP's process: | 11/18845-1 - Association between polymorphisms in modifier genes in children and adolescent with allergic and non-allergic mild, moderate and severe asthma |
| Grantee: | Jose Dirceu Ribeiro |
| Support type: | Regular Research Grants |