Evaluation of CFTR gene mutation testing methods in 136 diagnostic laboratories: report of a large European external quality assessment
作者： E Dequeker , J-J Cassiman
关键词: Genotype 、 Cftr mutation 、 Mutation (genetic algorithm) 、 Genotyping 、 Mutation testing 、 Internal medicine 、 Cftr gene 、 External quality assessment 、 Genetics 、 Biology 、 Restriction enzyme digestion
摘要: Within the framework of European Concerted Action on Cystic Fibrosis (Biomed-2, BMH4-CT96-0462) a quality assessment was set up for 135 and one Australian laboratory. Six DNA samples were sent to various laboratories. These carried following CFTR genotypes: dF508/N1303K; dI507/wild; dF508/G551D; dF508/621 + 1 GtoT; R553X/wild 1717-1 GtoA/wild. Each laboratory asked process as they routinely do, whether checked all mutations or not. More than 75% laboratories screened at least six these mutations. Heteroduplex analysis most frequently used primary testing method (47%), in many instances followed by restriction enzyme digestion. Only minority made use commercial mutation detection kit. On average, 91% correctly typed both alleles given sample. However, 35% incorrectly more from total 12 included trial. One even failed identify four different correctly. The genotyping error frequency tended be lower which perform 200 analyses per year. results this control trial suggest that there are (35%) have percentage errors unacceptable routine setting. development consensus strategy diagnostic centralised facilities rare country-specific limited number expert centres, combination with regular training sessions assessments, should further improve genotyping.
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