missense

简明释义

英[ˌmɪsˈsens]美[ˈmɪsˌsens]

n. [生化] 错义

adj. 错义的

英英释义

单词用法

同义词

反义词

例句

1.Missense mutation a point mutation that causes a change in one amino acid of a protein.

错义突变引起蛋白质中一个氨基酸变化的点突变。

2.Both frameshift and missense mutations can be suppressed by intragenic suppressors.

移码突变和异义突变都能被基因内抑制基因所抑制。

3.DNA damage caused by many factors may lead to missense mutation, deletion or illegal recombination.

多种因素可以引起DNA损伤而最终导致基因产生错义突变、缺失或错误重组。

4.Missense mutation — a mutation that changes a codon specific for one amino acid to specify another amino acid.

突变成编码另一种氨基酸的密码子。

5.The deletion mutation and missense mutation of COL7A1 gene result in the specific mutation in patients with clinical symptoms.

结论COL7A1基因的缺失突变和错义突变引起该患者临床症状的特异突变。

6.Methods We screened a family affected by long-QT syndrome type 1 and identified an autosomal dominant missense mutation (R190Q) in the KCNQ1 gene.

方法：筛选出患长qt综合征1型的家庭成员，并鉴定KCNQ1基因中一个常染色体显性遗传突变基因(R190 Q)。

7.We show that sodium channels with the missense mutation recover from inactivation more rapidly than normal and that the frameshift mutation causes the sodium channel to be non-functional.

电生理研究显示含有错义突变的钠离子通道比正常通道从静止中恢复的更快，而读码突变使钠离子通道失去功能。

8.We show that sodium channels with the missense mutation recover from inactivation more rapidly than normal and that the frameshift mutation causes the sodium channel to be non-functional.

电生理研究显示含有错义突变的钠离子通道比正常通道从静止中恢复的更快，而读码突变使钠离子通道失去功能。

9.The bioinformatics tools were used to predict the effects of missense 错义 variants.

生物信息学工具被用来预测missense 错义变体的影响。

10.The genetic mutation resulted in a missense 错义 change that altered the protein's function.

这次基因突变导致了一个missense 错义变化，改变了蛋白质的功能。

11.Researchers identified a missense 错义 mutation in the patient's DNA that was linked to the disease.

研究人员在患者的DNA中发现了一种与疾病相关的missense 错义突变。

12.The study focused on how missense 错义 mutations can affect enzyme activity.

该研究集中在missense 错义突变如何影响酶活性。

13.A specific missense 错义 mutation was found to increase cancer risk in certain populations.

在某些人群中发现了一种特定的missense 错义突变会增加癌症风险。

作文

In the realm of genetics, the term missense refers to a specific type of mutation that occurs in the DNA sequence. These mutations can have significant implications for protein synthesis and function. A missense mutation results when a single nucleotide change leads to the coding of a different amino acid in a protein. This alteration can disrupt the normal structure and function of the protein, potentially leading to various diseases or health issues. Understanding missense mutations is crucial for researchers and medical professionals alike, as they can provide insights into the mechanisms of genetic disorders.For instance, consider the case of sickle cell anemia, a well-known genetic condition caused by a missense mutation in the hemoglobin gene. In this instance, the substitution of adenine for thymine results in the replacement of glutamic acid with valine in the hemoglobin protein. This seemingly small change significantly alters the properties of hemoglobin, causing red blood cells to become rigid and sickle-shaped. The resulting complications from this structural change can lead to severe pain, organ damage, and increased risk of infection.Moreover, missense mutations are not always detrimental. Some mutations may have neutral effects, while others might even confer advantageous traits. For example, certain missense mutations in the CCR5 gene have been associated with resistance to HIV infection. In this case, the mutation alters the receptor on the surface of immune cells, preventing the virus from entering and infecting them. This highlights the complex nature of genetic mutations and their diverse consequences on human health.The study of missense mutations has also paved the way for advancements in personalized medicine. By understanding an individual's unique genetic makeup, healthcare providers can tailor treatments to target specific mutations. This approach not only enhances the effectiveness of therapies but also minimizes potential side effects. For instance, in cancer treatment, identifying missense mutations in tumor cells can help determine the most appropriate targeted therapy for a patient, ultimately improving outcomes.In conclusion, missense mutations play a critical role in genetics and medicine. They can lead to various health conditions, ranging from benign to life-threatening. As research continues to evolve, the understanding of missense mutations will undoubtedly contribute to more effective diagnostic and therapeutic strategies, enhancing our ability to combat genetic diseases and improve overall health. The implications of these mutations extend beyond individual cases, influencing public health policies and genetic counseling practices. Thus, grasping the concept of missense mutations is essential for anyone interested in the field of genetics and its applications in modern medicine.

在遗传学领域，术语missense指的是DNA序列中发生的一种特定类型的突变。这些突变可能对蛋白质的合成和功能产生重大影响。missense突变发生在单个核苷酸的变化导致编码不同氨基酸的情况下。这种改变可能会干扰蛋白质的正常结构和功能，从而潜在地导致各种疾病或健康问题。理解missense突变对于研究人员和医疗专业人员而言至关重要，因为它们可以提供对遗传疾病机制的洞察。例如，考虑镰状细胞贫血的案例，这是一种由missense突变引起的众所周知的遗传病。在这种情况下，腺嘌呤替代了胸腺嘧啶，导致血红蛋白蛋白质中的谷氨酸被缬氨酸取代。这一看似微小的变化显著改变了血红蛋白的性质，导致红细胞变得僵硬并呈镰刀状。这种结构变化所导致的并发症可能会导致严重的疼痛、器官损伤和感染风险增加。此外，missense突变并不总是有害的。一些突变可能具有中性效应，而另一些则可能甚至带来有利的特征。例如，某些missense突变与HIV感染的抵抗力有关。在这种情况下，突变改变了免疫细胞表面受体，阻止病毒进入和感染它们。这突显了遗传突变的复杂性及其对人类健康的多样后果。对missense突变的研究还为个性化医学的进步铺平了道路。通过了解个体独特的遗传构成，医疗保健提供者可以量身定制治疗方案，以针对特定突变。这种方法不仅增强了治疗的有效性，还最小化了潜在的副作用。例如，在癌症治疗中，识别肿瘤细胞中的missense突变可以帮助确定最合适的靶向治疗方案，从而最终改善结果。总之，missense突变在遗传学和医学中发挥着关键作用。它们可能导致各种健康状况，从良性到危及生命。随着研究的不断发展，对missense突变的理解无疑将有助于更有效的诊断和治疗策略，提高我们对抗遗传疾病和改善整体健康的能力。这些突变的影响超越个别病例，影响公共卫生政策和遗传咨询实践。因此，掌握missense突变的概念对于任何对遗传学及其在现代医学中应用感兴趣的人来说都是必不可少的。