This can occur through a mutation in the gene's DNA sequence or through deletion of the gene.
这种缺失可能起源于基因的突变或者通过基因序列的缺失而产生。
Objective: to detect allelic deletion and mutation of FHIT gene in gastric cancer, and to analyze the role of the abnormalities in the carcinogenesis of gastric cancer.
目的：检测脆性组氨酸三联体基因在胃癌组织中等位基因缺失和突变情况，分析该异常在胃癌发生中的作用。
It is also improved M and NS genes by a site mutation and a gene deletion method.
通过点变异和基因删除方法对M和NS基因进行改进；
The deletion mutation and missense mutation of COL7A1 gene result in the specific mutation in patients with clinical symptoms.
结论COL7A1基因的缺失突变和错义突变引起该患者临床症状的特异突变。
FAP is a monogenetic disease and is caused by the mutation or deletion of the adenomatous polyposis coli (APC) gene which is found on chromosome 5.
FAP是一种单基因遗传病，是由APC基因的突变或缺失引起的(apc)基因是5号染色体上发现的。
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。
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