The newly published study analysed cardiomyopathy-associated gene mutations, including the variant A143T of the GLA gene, in altogether 11 members of the same family.
东欧犹太人后裔中BRCA1和-2的一些基因突变更常见,”汉普尔说。
Some genetic mutations in BRCA1 and -2 are more common among people of Eastern European Jewish descent," Hampel says.
数十年来大家一直知道人人都携带着一些似乎没有危害或危害不大的基因突变。
It has been known for decades that everyone carries some damaging genetic variants that appear to cause little or no ill effect.
研究人员发现了一种特殊的基因突变,这种突变与前列腺癌发病风险的增加以及疾病的严重程度有关。
The researchers found one particular genetic mutation that correlated with an increased risk of developing prostate cancer as well as the severity of the disease.
DNA证据表明,带来斑驳花纹的基因突变出现在一只14世纪土耳其西部的猫身上。
DNA evidence suggests the gene mutation that causes blotched markings appeared in a cat in western Turkey in the 14th Century.
脱氧核糖核酸测序可用于检测许多潜在的基因突变,并帮助指导病人同时管理,治疗和预后预测,包括。
DNA sequencing may be used to detect many potential gene mutations simultaneously and to help guide patient management, including treatment and outcome prediction.
现在有很好的证据表明,一些患有自闭症的人可能继承从头一些对大脑发育产生影响的基因突变。
There is now good evidence that some people with autism may have inherited de novo genetic mutations that have an effect on brain development.
通过流行病学方法确认新的基因突变导致癌症通常需要多年来寻找世界各地的类似家庭。
Confirming that a new genetic mutation causes cancer by epidemiologic approaches often requires many years of searching for similar families around the world.
DNA测试是可用的只有半打的共同基因突变,虽然他们已知突变可能几十个,但不是定期测试.
DNA testing is available for only a half dozen common gene mutations, while dozens of known mutations are possible but are not routinely tested.
大约90%以上的透明细胞肾细胞癌患者具有导致VHL功能丧失的基因突变或变化。
Approximately 90 percent of patients with clear cell renal cell carcinoma have genetic mutations or alterations that cause them to lose the function of VHL.
如果您的家人有视网膜母细胞瘤病史,血液DNA检测可以寻找引起它的基因突变。
If your family has a history of retininoblastoma, a blood DNA test can look for the gene mutation that causes it.
事实:如果你患有某种早期阿尔茨海默病的基因突变(占所有病例的1%),你就无法预防它。
Fact: If you have a certain genetic mutation for early-onset Alzheimer's disease(which accounts for 1% of all cases) you cannot prevent it.
增加神经母细胞瘤风险的基因突变有时是遗传的(从父母传给孩子)。
Gene mutations that increase the risk of neuroblastoma are sometimes inherited(passed from the parent to the child).
但细胞分化也容易出错,包括血细胞在内的各种细胞分化频率越高,就可能积累越多的基因突变。
Cell division, however, is error-prone, and more frequently dividing cells, including the blood, are more likely to accumulate genetic mutations.
据估计,每300人中就有1人可能是与Lynch综合征有关的基因突变携带者。
It is estimated that as many as 1 in 300 people may carry a gene mutation associated with Lynch syndrome.
This genetic mutation- located in the DNMT3A region of chromosome 2p- appears to allow a patient's immune response to better resolve their MRSA bloodstream infection.
Yet another concern lies with the safety of gene-editing technologies such as the popular CRISPR/Cas 9 system when correcting diabetes-associated gene mutations.
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