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Cystic fibrosis in the Portuguese population: haplotype distribution and molecular pathology |
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| Authors: | Angela Duarte Celeste Barreto Luís Marques-Pinto M Carmo Tavares Jorge Amil Maximina Pinto M Lurdes Chieira Sérgio Castedo João Lavinha |
| Institution: | 1. Laboratório de Genética Humana, Instituto Nacional de Saúde, P-1699, Lisbon Codex, Portugal 2. Servi?o de Pediatria, Hospital de Sta Maria, P-1699, Lisbon Codex, Portugal 3. Servi?o de Genética, Faculdade de Medicina do Porto, P-4200, Porto, Portugal 4. Servi?o de Pediatria, Hospital de S.Jo?o, P-4200, Porto, Portugal 5. Instituto de Genética Médica, P-4000, Porto, Portugal 6. Hospital Pediátrico de Coimbra, P-3000, Coimbra, Portugal |
| Abstract: | Summary The aim of this study was to obtain an estimate of the frequency of the ΔF508 mutation in the Portuguese population, and of the tightness of its association with specific haplotypes. Furthermore, the genotype/clinical phenotype relationship and the feasibility of prenatal diagnosis were also investigated. The analysis of 42 cystic fibrosis (CF) families revealed that (1) 52% of CF chromosomes carry the deletion of codon 508; (2) there seems to be a positive correlation between the occurrence of the ΔF508 mutation and the severity of the disease; and (3) fully informative prenatal diagnosis can be offered in 76% of at-risk pregnancies by using both genomic and allele specific oligonucleotide probes. |
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