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结论3例FA-A型患者均无功能性FANCA蛋白表达；基因缺失、移码突变和剪切位点突变是FANCA基因的主要失活方式。
Conclusions No functional FANCA protein was found in these 3 cases of FA-A, and intragenic deletion, frame shift and splice site mutation were the major pathogenic mutations found in FANCA gene.
结果各水样中有大量的碱基移码型的直接致突变物和少量的需经代谢活化的碱基移码型的直接致突变物。
Results all samples of water have plenty of direct mutagen and a small amount of indirect mutagen of base frameshift mutation.
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