This tool was designed to study gene mutations that can cause human disease.

该工具旨在研究可能导致人类疾病的基因突变。

Such adaptations include gene mutations that shift the way penguins see the world.

这种适应包括改变企鹅看世界的方式的基因突变。

Finally, the diagnosis is confirmed by genetic testing to look for hemoglobin gene mutations.

最后，可以通过基因检测寻找异常血红蛋白基因进行确诊。

Genetic tests for known gene mutation associated with Kallmann syndrome can also be done.

也可对已知与Kallmann综合征相关的基因突变进行基因检测。

In addition, there are new genetic technologies on the horizon aimed at correcting specific gene mutations.

此外，还可以预见新的基因治疗手段通过纠正特定突变来治疗疾病。

Based on research of white and brown coast pandas, this could be due to a gene mutation.

“根据对白熊和棕熊的研究，这可能是基因突变。

The majority of individuals with the HMBS gene mutation and a deficiency of porphobilinogen deaminase are asymptomatic.

存在HMBS基因突变及缺乏卟胆原脱氨酶的人群大部分没有症状。

She tested negative for the BRCA1 and BRCA2 gene mutation that increases a woman's risk of breast and ovarian cancer.

她的BRCA1和BRCA2基因突变检测呈阴性，而这种基因突变会增加女性患乳腺癌和卵巢癌的风险。

And it's all thanks to a gene mutation.

而这一切都要归功于基因突变。

Most of these gene mutations are deletions or duplications of one or more exons, and a small amount are point mutations.

基因突变大多数为一个或多个外显子的缺失或重复，小部分是点突变。

In fact, many different gene mutations have been identified each of which is known to cause different types of spinocerebellar ataxia.

实际上，目前已经鉴定出不同的基因突变；每种突变都会导致不同类型的脊髓小脑性共济失调。

Take a hypothetical gene mutation that proves fatal during childhood.

假设一个在童年时期被证明是致命的基因突变。

Osteosarcoma is linked to RB1 and TP53 genes mutations, while Ewing sarcoma is thought to arise when there are EWSR1, and FLI1 genes mutation.

骨肉瘤与RB1和TP53基因突变有关，尤因肉瘤被认为源于EWSR1和FLI1基因的易位。

Imagine a gene mutation creates a new color of hair.

想像一个新的基因变异创造出新发色。

Abnormally, an egg could have two naturally occurring gene mutations that don't naturally occur together.

异常情况下，一个鸡蛋可能有两个自然发生的基因突变，但这些突变不会自然发生。

These defects are the result of gene mutations sometimes caused by infectious viruses.

这些缺陷是有时由感染性病毒引起的基因突变的结果。

Genetic testing for HEX A gene mutations and sequencing of the HEX A gene are used for diagnosis and heterozygous carrier detection.

HEX-A突变基因检测或HEX-A基因测序等可用于诊断该病或发现杂合携带者。

The results should ease fears that gene mutations alone decide one's brain health, said Rudy Tanzi, a genetics expert at Massachusetts General Hospital.

研究结果应该缓解了人们的担忧，之前大家都担心只有基因突变能决定人类的脑部健康，鲁迪如是说道。

So gene therapies are fantastic for diseases that can be attributed to a single gene mutation or single root cause.

因此，对于可归因于单一基因突变或单一根本原因的疾病，基因疗法非常有效。

There is clear evidence that a single gene mutation can lead to obesity, such as, for instance, leptin deficiency and POMC deficiency.

有明确的证据表明，单个基因突变会导致肥胖，例如瘦素缺乏和 POMC 缺乏。