ABCMdb

PMID: 17062471

Merelle ME, Scheffer H, De Jong D, Dankert-Roelse JE
Extended gene analysis can increase specificity of neonatal screening for cystic fibrosis.
Acta Paediatr. 2006 Nov;95(11):1424-8., [PubMed]

Sentences

No. Mutations Sentence Comment

58 ABCC7 p.Arg553* ABCC7 p.Arg1070Gln ABCC7 p.Glu60* ABCC7 p.Ser589Asn Results Reliability of the extended gene analysis The following mutations were found in the study population: DF508, 3659delC, R553X, S589N, R1070Q and E60X (Table I). Login to comment 59 ABCC7 p.Arg553* ABCC7 p.Arg1070Gln ABCC7 p.Ser589Asn The 3659delC, R553X, S589N and R1070Q mutations were identified by OLA analysis. Login to comment 60 ABCC7 p.Glu60* However, the E60X mutation was found only after DGGE analysis (Figure 1). Login to comment 91 ABCC7 p.Glu60* In individual 2 (lower lane), a number of sequence variations are detected: the non-pathogenic variations 1540A/G (M470V) in exon 10 and the 3041-71G/C in intron 15 (amplicon number 16) are heterozygously present, as well as the pathogenic mutation E60X (exon 3). Login to comment 94 ABCC7 p.Arg553* ABCC7 p.Arg1070Gln ABCC7 p.Glu60* ABCC7 p.Ser589Asn ABCC7 p.Ser589Asn Genotypes Number DF508/DF508 5 DF508/3659delC 1 DF508/R553X 1 DF508/S589N 1 DF508/R1070Q 1 DF508/E60X 1 DF508/N 8 3659delC/N 1 S589N/N 1 Total 20 N: no CFTR mutation. Login to comment 104 ABCC7 p.Glu60* To be certain that no patients will be missed, a DGGE analysis or similar technology following the OLA analysis is necessary, as is shown by the patient carrying a ^F508 mutation and the E60X mutation that was discovered through the DGGE analysis. Login to comment