ABCMdb

PMID: 15665983

Araujo FG, Novaes FC, Santos NP, Martins VC, Souza SM, Santos SE, Ribeiro-dos-Santos AK
Prevalence of deltaF508, G551D, G542X, and R553X mutations among cystic fibrosis patients in the North of Brazil.
Braz J Med Biol Res. 2005 Jan;38(1):11-5. Epub 2005 Jan 18., [PubMed]

Sentences

No. Mutations Sentence Comment

6 ABCC7 p.Gly551Asp The ࢞F508 and G551D mutations presented frequencies of 22.7 and 3%, respectively. Login to comment 9 ABCC7 p.Gly551Asp the most frequent mutation (࢞F508) in the North region of Brazil and is also the first report of the G551D mutation. Login to comment 11 ABCC7 p.Gly551Asp Correspondence A.K.C. Ribeiro-dos-Santos Laborat&#f3;rio de Gen&#e9;tica Humana e M&#e9;dica Departamento de Patologia Centro de Ci&#ea;ncias Biol&#f3;gicas, UFPA Caixa Postal 8615 66075-970 Bel&#e9;m, PA Brasil Fax: +55-91-249-0373 E-mail: andrea@canal13.com.br or akely@ufpa.br Received October 31, 2003 Accepted October 19, 2004 Key words ߦ Cystic fibrosis ߦ Gene mutations ߦ Amazon region ߦ Bel&#e9;m ߦ ࢞F508 gene ߦ G551D gene Cystic fibrosis (CF) is an exocrine disease with an autosomal recessive pattern of inheritance. Login to comment 14 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ࢞F508 is the most common CF mutation (66%) in the worldwide populations studied to date, although other mutations such as G542X (2.4%), G551D (1.6%), N1303K Brazilian Journal of Medical and Biological Research (2005) 38: 11-15 ISSN 0100-879X Short Communication (1.3%), and W1282X (1.2%) (5-13) may be relatively frequent depending on the ethnic origin of the population. Login to comment 24 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* (8)about CF in S&#e3;o Paulo State demonstrated the presence of the G542X, N1303K and W1282X mutations, with frequencies of 8.35, 1.6 and 0.8%, respectively. Login to comment 26 ABCC7 p.Gly542* (7) first reported two patients from the city of Rio de Janeiro carrying the G542X mutation and five other patients carrying splicing mutations 3120+1G࢐A. ThewidespectrumofCFmutations(more than 900 already described) and the heterogeneous ethnic origin of the Brazilian population are important factors that must be considered to draw a broader map of this disease in the Brazilian territory. Login to comment 27 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Gly542* Thus, the main objective of the present study was to investigate the four most frequent CF mutations (࢞F508, G542X, G551D, and R553X) in a sample of patients with an established clinical diagnosis of CF in the North region of Brazil. Login to comment 33 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Gly542* Region Number of alleles Mutations (%) Reference ࢞F508 G542X G551D R553X South Rio Grande do Sul 106 49.1 2.8 0 0 5 Rio Grande do Sul 154 48.7 3.2 0 0.7 12 Santa Catarina 58 55.2 3.5 0 0 5 Santa Catarina 48 27 0 0 0 9 Paran&#e1; 100 39 9 0 2 5 Southeast S&#e3;o Paulo 110 52.7 10 0.9 2.7 5 Rio de Janeiro 88 30.7 2.3 1.1 0 6 Rio de Janeiro 148 25.7 0 0 0 7 Rio de Janeiro 34 35.3 - - - 9 Minas Gerais 62 32.6 4.2 0 0 5 North Bel&#e9;m 66 22.7 0 3 0 Present study approved this research. Login to comment 36 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Gly542* The four mutations (࢞F508, G542X, G551D, and R553X) were amplified using primers and conditions described below. Login to comment 38 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Gly542* The volume 50 &#b5;l was used to observe the G542X, G551D and R553X mutations (exon 11). Login to comment 40 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Gly542* A region of 114 bp was amplified and then three mutations were investigated: G542X, G551D and R553X. Login to comment 44 ABCC7 p.Gly542* The mutation G542X made use of the endonuclease BstN I. Login to comment 45 ABCC7 p.Gly551Asp ABCC7 p.Gly542* For the individuals who presented the pattern (+/+), which indicates absence of the mutation G542X, the investigation of a second restriction site was made for the endonuclease HincII (G551D). Login to comment 46 ABCC7 p.Gly551Asp ABCC7 p.Arg553* For the individuals who presented the pattern (+/ +), or else, absence of the mutation G551D, the investigation of the mutation R553X was also held. Login to comment 47 ABCC7 p.Arg553* At last, for the previous individuals, an investigation for the mutation R553X was made, using endonuclease MboI. Login to comment 50 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Gly542* The analysis of the G542X, G551D and R553X mutations were observed by 9% polyacrylamide gel electrophoresis. Login to comment 54 ABCC7 p.Gly551Asp Two mutations were detected among the patients, ࢞F508 and G551D, with frequencies of 22.7% (15/66 chromosomes) and 3% (2/66 chromosomes), respectively (Table 1). Login to comment 60 ABCC7 p.Gly551Asp + + + + + responded to the genotype ࢞F508/G551D. Login to comment 61 ABCC7 p.Gly551Asp The other sample with the G551D mutation was also heterozygous but, once again, it was not possible to identify the second allele. Login to comment