1) germ-line epimutation
胚系表观突变
1.
In addition, germ-line epimutations of other tumor suppressor genes (TSGs), such as MSH2 and BRCA1, have also been reported, demonstrating that epimutations might arise in the germ- line (during gametogenesis or early embryonic development).
这种胚系表观突变类似于经典的基因胚系序列突变,可能成为人类疾病发生的病因。
2) germline mutation
胚系突变
1.
A novel APC gene germline mutation in a familial adenomatous polyposis pedigree;
家族性腺瘤性息肉病家系中一种新的APC基因的胚系突变
2.
Analysis of germline mutations in the APC gene in familial adenomatous polyposis patients;
家族性腺瘤样息肉病中APC基因的胚系突变分析(英文)
3.
Objective To identify hereditary nonpolyposis colorectal cancer (HNPCC) families based on the germline mutations of MLH1 and MSH2 mRNA.
结果利用基于外周血mRNA的方法,在6个家系中检出6个胚系突变,4个MLH1突变和2个MSH2突变,MLH1突变分别位于第8、12、16和第19外显子;MSH2突变分别位于第1和第2外显子。
3) epigenetic mutation
表观突变
5) Endosperm mutant
胚乳突变体
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