presence of mutations. Bickmann et Level III-2: N=92 CF patients Not reported Pyrosequencing: single-stranded DNA was CF patients had typical al. (2009) prepared and used for pyrosequencing, and the symptoms and positive A comparison with quantitative signal was detected with the PSQ sweat test results. reference standard (not Germany 96MA instrument. blinded or blinding not known) Quality: good with a low risk of bias Bonizzato et Level III-2: N=225 chromosomes from Inclusion criteria: RFLP, RNA-SSCP and DGGE analysis of the Diagnosis was confirmed by al. (1995) 133 CF patients CFTR gene at least two positive sweat A comparison with All CF patients born between tests. Gasparini et reference standard (not N=24 chromosomes (12 10 January 1973 and The presence of a given mutation in al. (1993) blinded or blinding not patients) from whom DNA 12 December 1981 in two electrophoretically altered fragments was known) was not available northern Italian regions always determined by DNA sequencing. Italy (Veneto and Quality: intermediate N=17 chromosomes shared with some risk of bias by 8 siblings and 2 cousins were excluded from Exclusion criteria: analysis For mutation frequency analysis, 8 brothers or sisters and 1 common chromosome shared by cousins were discarded Bonizzato et Level III-2: N=806 chromosomes from Not reported Reverse dot-blot hybridisation assay designed Diagnosis of CF was by al. () 403 CF patients to detect the 15 most common CFTR mutations sweat test. A comparison with in Italy Italy reference standard (not blinded or blinding not known) Quality: good with a low risk of bias
presence of mutations. Bickmann et al. (2009) Germany Level III-2: A comparison with reference standard (not blinded or blinding not known) Quality: good with a low risk of bias N=92 CF patients Not reported Pyrosequencing: single-stranded DNA was prepared and used for pyrosequencing, and the quantitative signal was detected with the PSQ 96MA instrument. CF patients had typical symptoms and positive sweat test results. Bonizzato et al. (1995) Gasparini et al. (1993) Italy Level III-2: A comparison with reference standard (not blinded or blinding not known) Quality: intermediate with some risk of bias N=225 chromosomes from 133 CF patients N=24 chromosomes (12 patients) from whom DNA was not available N=17 chromosomes shared by 8 siblings and 2 cousins were excluded from analysis Inclusion criteria: All CF patients born between 10 January 1973 and 12 December 1981 in two northern Italian regions (Veneto and Exclusion criteria: For mutation frequency analysis, 8 brothers or sisters and 1 common chromosome shared by cousins were discarded RFLP, RNA-SSCP and DGGE analysis of the CFTR gene The presence of a given mutation in electrophoretically altered fragments was always determined by DNA sequencing. Diagnosis was confirmed by at least two positive sweat tests. Bonizzato et al. () Italy Level III-2: A comparison with reference standard (not blinded or blinding not known) Quality: good with a low risk of bias N=806 chromosomes from 403 CF patients Not reported Reverse dot-blot hybridisation assay designed to detect the 15 most common CFTR mutations in Italy Diagnosis of CF was by sweat test.
1216-MSAC-CA-CFTR.docx