Objective to identify the mutation gene of a Chinese family with ectopia lentis.
目的研究我国单纯性晶状体异位家系的致病基因，并确定基因突变。
Objective To clone human ornithine decarboxylase antizyme (OAZ) mutation gene and express its recombinant protein.
目的构建人鸟氨酸脱羧酶抗酶(OAZ)突变基因，重组至原核表达载体中并表达出重组蛋白。
If a copy of a gene is a bit different from the original, that's called a genetic mutation.
如果一个复制的基因与原来的有些许不同，那就叫做基因突变。
For example, the hereditary hemochromatosis mutation protects carriers from iron-deficiency because the mutated gene allows increased efficiency of iron absorption.
例如，因为突变的基因可以提高铁的吸收效率，所以遗传性血色素沉着病突变可以保护带菌者不缺铁。
The objective is to analyse the mutation of K17 gene in a pedigree with steatocystoma multiplex.
目的是研究多发性皮脂腺囊肿一家系中角蛋白17的基因突变情况。
Turkish scientists led by Tayfun Ozcelik suggested that a mutation in a single gene might result in quadrupedalism.
由塔丰·奥兹利克带领的土耳其科学家提出，一个基因的突变可能会导致四足动物的出现。
This research intended to construct a eukaryotic expression vector with a site-directed mutation of porcine MSTN propeptide gene.
本研究旨在构建具有猪 MSTN 前肽基因定点突变的真核表达载体。
No pathogenic mutation was detected in the exon and franking regions of MYH9 gene except a synonymous mutation.
除同义突变外，在MYH9基因的外显子和弗兰克区域未检测到致病突变。
But researchers suspect a mutation in one gene allows some people to skip the process of forming fingerprints during development.
但是研究者猜想有一个基因突变使得有些人在生长过程中跳过指纹的形成过程。
The researchers are not yet certain how the gene mutation works to shift people's sleep time.
但科学家们目前尚不能确定这种基因突变是如何改变人们睡眠时间的。
The team thought this protection might come from the same gene mutation that made these people so small.
科学家认为，就是这种让人长不高的基因变异保护他们免受这些疾病侵袭。
Also, some shorter people possess a rare genetic mutation, known as the "Methuselah gene," that seems to extend their life spans.
但是恰恰是一些个子不高的人会有很少见的基因突变，也就是“高寿基因”，它可以延长寿命。
Scientists have discovered a group of people in Ecuador with a rare gene mutation that could reveal ways to extend the human life span.
科学家在一群厄瓜多尔人身上发现了一种罕见的基因突变，有望据此揭开长寿的谜底。
Previous research has shown that gene mutation in SHANK3 is associated with delayed language abilities, learning disability, and ASDs.
之前的研究表明，SHANK3的基因突变与语言能力发育迟缓、学习障碍和泛自闭障碍症有关。
Take the gene mutation that causes phenylketonuria, or PKU. People with the disease can't break down the amino acid phenylalanine, a problem that can lead to severe cognitive damage.
提取能导致苯丙酮尿症（PKU）的基因突变.患这种病的人不能分解氨基酸苯丙氨酸，这会导致严重的认知损坏。
In other words, it may be a particular genetic mutation of a serotonin-receptor gene, and not the employer's incentives, say, that is making people happier with their work.
换句话说，是血清素受体基因的某个特定遗传突变，而不是雇主的激励，使得人们对自己的工作更满意。
The most promising is PLX4032, a molecule which blocks the action of the protein produced by a specific mutation of a gene called B-RAF.
最有可能结合的药物是PLX4032，这种分子可阻断由B-RAF等位基因突变后产生的蛋白质的活动。
The reason was that Mr Brin had recently discovered that he has inherited from his mother a mutation of a gene called LRRK2 that appears to predispose carriers to familial Parkinson’s.
因为布林先生最近发现，他从母亲那里遗传了一个变异的基因LRRK2。 研究显示，变异的LRRK2可能使得有家族患病史的携带者患帕金森氏症的几率增加。
Although the gene is thought to cause only 1% of cases directly, the mutation is linked to changes seen in 90% of patients with the disease.
尽管这个基因只能直接造成大约1%的疾病，但是90%的患者这个基因都发生了突变。
The scientists found this mutation, at a gene called HERC2.
最终，这个团队发现了此变种，变异基因命名为HERC2。
Around the same time, Fisher and his team engineered mice so that one copy of their FOXP2 gene carried the same mutation as that found in the KE family.
与此同时，费舍尔和他的团队也培养了在FOXP2基因中一种携带和KE家庭同样突变的老鼠。
Imagine a new mutation arising in a gene.
设想一下在一个基因上发生了一个新的突变。
Full genome sequencing, however, revealed she had a mutation in a gene called TP53, which suppresses tumor formation.
然而通过对她的整个基因组测序发现，一个编号为TP53的基因发生了突变，而这正促使了肿瘤的形成。
The patients in the study carry a mutation in a gene called TDP43.
本次研究中，患者发生突变的基因名为TDP43。
The phenomenon, known as Kermodism, is triggered by a recessive mutation at the MC1R gene, the same gene associated with red hair and fair skin in humans.
这种现象称作“卡莫德现象”，是由于MC1R基因发生了隐性突变引发的。
After 100 generations of breeding, a mutation led to one of them evolving a "gene" instructing it to move forward.
在繁衍一百代之后，一次突变会引起它们中的一个进化出引导其向前移动的基因。
In humans, mutation of the gene for Kv1.1 has been associated with spontaneous seizures, abnormal muscle movements, and motor coordination problems.
在人体中，Kv 1.1对应的基因突变与自发性疾病发作，异常肌肉运作，和肌肉协调问题有关。
The mutation in the MC1R gene also occurs in brunets, although it's less common.
黑素皮质素受体基因变异也可能在深色头发的人群中发生，但几率较小。
The mutation in the MC1R gene also occurs in brunets, although it's less common.
黑素皮质素受体基因变异也可能在深色头发的人群中发生，但几率较小。
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