但是在世界上的某些地区，比如中非，由于基因突变而导致的白化病或色素脱失的婴儿会导致人们的害怕和迷信，有时甚至会被杀死。
But in some parts of the world, such as central Africa, mutations that result in albinism (or a significant depigmentation) of a baby can provoke fear and superstition and sometimes even infanticide.
这有助于肾脏突变的远端保钠，但会以失钾为代价。
This helps the kidneys retain sodium distal to the site of the mutation but at the expense of losing potassium.
例如，结果从一个白化突变失活的基因称为酪氨酸酶，这是至关重要的黑色色素的形成。
For example, albinism results from a mutation that inactivates a gene called tyrosinase, which is vital to black pigment formation.
原癌基因的激活，抑癌基因的失活、突变，抗细胞凋亡等不同的机制都可能参与其中。
The different mechanisms, such as the activation of oncogenes, the inactivation and mutation of tumor suppressor gene, antiapoptosis and so on are involved in .
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.
前人的研究表明，该基因突变失活以后，会引发人类原发性小脑症，病人的脑容量仅有正常人的三分之一到四分之一，相当于早期类人猿的脑容量。
It was reported that truncated mutations in this gene can cause primary microcephaly in humans with a brain size comparable with that of early hominids.
PTEN肿瘤抑制因子在乳腺癌中虽常呈失表达，但并不是通过基因突变或促进子甲基化而实现的，因此其失表达的机制还不清楚。
Expression of the PTEN tumor suppressor is frequently lost in breast cancer in the absence of mutation or promoter methylation through as yet undetermined mechanisms.
PTEN肿瘤抑制因子在乳腺癌中虽常呈失表达，但并不是通过基因突变或促进子甲基化而实现的，因此其失表达的机制还不清楚。
Expression of the PTEN tumor suppressor is frequently lost in breast cancer in the absence of mutation or promoter methylation through as yet undetermined mechanisms.
应用推荐