Validation of Fanconi anemia complementation Group A assignment using molecular analysis

摘要: Purpose: Fanconi anemia is a genetically heterogeneous chromosomal breakage disorder exhibiting high degree of clinical variability. Clinical diagnoses are confirmed by testing patient cells for increased sensitivity to crosslinking agents. complementation group assignment, essential efficient molecular diagnosis the disease, had not been validated application before this study. The purpose study was (1) confirmation accuracy assignment Group A (FANCA) and (2) development rapid mutation detection strategy that ensures capture all FANCA mutations. Methods: Using fibroblasts from 29 patients, made through analysis studies. coding flanking sequences were analyzed using denaturing pressure liquid chromatography, sequencing, multiplex ligation-dependent probe amplification. Patients in which two mutations identified cDNA sequencing. with no sequenced FANCC, G, E, F. Results: Of 56 putative mutant alleles studied, 89% an identifiable pathogenic mutation. Eight unique novel identified. Conclusion: Complementation laboratory setting our strategy.