13例肿瘤中有12例发现杂合子突变。
方法：调查9名杂合子突变携带者和9名健康对照者。
Methods: nine heterozygous mutation carriers and nine healthy controls were investigated.
纯合子突变小鼠在各个胚胎时期都有预期中的出现比例，在大小与型态上并没有明显的缺陷。
Homozygous mutant mice showed expected ratio and no obvious defect in sizes and morphologies at all embryonic stages examined.
然而大部分(90%)的纯合子突变小鼠都在出生后24小时以内陆续死亡。其中63%的肠胃都出现有严重的气体胀大与缺乏奶水。
However, most (90%) of homozygous mutant mice die within 24 hours after birth, and 63% of them show severe air dilatation and lack milk in stomach and intestine.
有发现突变纯合子。
嵌合体由两种或两种以上有不同基因结构的组织所构成的有机体，由于突变、嫁接或来自不同合子的细胞群体相混合而产生。
An organism consisting of two or more tissues of different genetic composition, produced as a result of mutation, grafting, or the mixture of cell populations from different zygotes.
大多数父母是一个正常等位基因和一个突变等位基因的杂合子。
Most parents are heterozygotes with one normal allele and one mutated allele.
杂合子i型(定量)和大多数II型(定性)抗凝血酶缺乏症使静脉血栓栓塞(VTE)的风险显着增加，而纯合型突变会导致死亡。
Heterozygous type I (quantitative) and most type II (qualitative) antithrombin deficiencies highly increase the risk of venous thromboembolism (VTE), while homozygous mutations are lethal.
杂合子i型(定量)和大多数II型(定性)抗凝血酶缺乏症使静脉血栓栓塞(VTE)的风险显着增加，而纯合型突变会导致死亡。
Heterozygous type I (quantitative) and most type II (qualitative) antithrombin deficiencies highly increase the risk of venous thromboembolism (VTE), while homozygous mutations are lethal.
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