caa a22 4500 467985553 CHVBK 20180323112530.0 cr unu---uuuuu 170328e19900901xx s 000 0 eng 10.1007/BF02428279 doi (NATIONALLICENCE)springer-10.1007/BF02428279 Cystic fibrosis in the Portuguese population: haplotype distribution and molecular pathology [Elektronische Daten] [Angela Duarte, Celeste Barreto, Luís Marques-Pinto, M. Tavares, Jorge Amil, Maximina Pinto, M. Chieira, Sérgio Castedo, João Lavinha] 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. Springer-Verlag, 1990 Duarte Angela Laboratório de Genética Humana, Instituto Nacional de Saúde, P-1699, Lisbon Codex, Portugal aut Barreto Celeste Serviço de Pediatria, Hospital de Sta Maria, P-1699, Lisbon Codex, Portugal aut Marques-Pinto Luís Serviço de Pediatria, Hospital de Sta Maria, P-1699, Lisbon Codex, Portugal aut Tavares M. Serviço de Genética, Faculdade de Medicina do Porto, P-4200, Porto, Portugal aut Amil Jorge Serviço de Pediatria, Hospital de S.João, P-4200, Porto, Portugal aut Pinto Maximina Instituto de Genética Médica, P-4000, Porto, Portugal aut Chieira M. Hospital Pediátrico de Coimbra, P-3000, Coimbra, Portugal aut Castedo Sérgio Serviço de Genética, Faculdade de Medicina do Porto, P-4200, Porto, Portugal aut Lavinha João Laboratório de Genética Humana, Instituto Nacional de Saúde, P-1699, Lisbon Codex, Portugal aut Human Genetics Springer-Verlag 85/4(1990-09-01), 404-405 0340-6717 85:4<404 1990 85 439 https://doi.org/10.1007/BF02428279 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF02428279 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Duarte Angela Laboratório de Genética Humana, Instituto Nacional de Saúde, P-1699, Lisbon Codex, Portugal aut NATIONALLICENCE 700 1- Barreto Celeste Serviço de Pediatria, Hospital de Sta Maria, P-1699, Lisbon Codex, Portugal aut NATIONALLICENCE 700 1- Marques-Pinto Luís Serviço de Pediatria, Hospital de Sta Maria, P-1699, Lisbon Codex, Portugal aut NATIONALLICENCE 700 1- Tavares M. Serviço de Genética, Faculdade de Medicina do Porto, P-4200, Porto, Portugal aut NATIONALLICENCE 700 1- Amil Jorge Serviço de Pediatria, Hospital de S.João, P-4200, Porto, Portugal aut NATIONALLICENCE 700 1- Pinto Maximina Instituto de Genética Médica, P-4000, Porto, Portugal aut NATIONALLICENCE 700 1- Chieira M. Hospital Pediátrico de Coimbra, P-3000, Coimbra, Portugal aut NATIONALLICENCE 700 1- Castedo Sérgio Serviço de Genética, Faculdade de Medicina do Porto, P-4200, Porto, Portugal aut NATIONALLICENCE 700 1- Lavinha João Laboratório de Genética Humana, Instituto Nacional de Saúde, P-1699, Lisbon Codex, Portugal aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/4(1990-09-01), 404-405 0340-6717 85:4<404 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer