[生化][遗] 点突变
Conclusion:The point mutation in this area of mitochondrial DNA might not be related hereditary ataxia.
结论：遗传性共济失调的发生、发展可能与该区域点突变无关。
The results suggested that AIV 178 isolate was amantadine resistant, and the position 31 amino acid point mutation in M2 protein may confer the resistance.
结果表明AIV 178分离株具有对金刚烷胺的耐药性，而且M2蛋白的第31位氨基酸突变可能与此有关。
PCR-SSCP was a convenient and efficient method to detect gene point mutation.
SSCP是检测基因点突变的一种快速、敏感、有效的方法。
In this article, the growth regulating mechanism of chicken is discussed, The sex-linked dwarfism in chickens is due to the GHR gene mutation and point mutation and deletion are two main forms.
从鸡生长调控机制出发，阐述了鸡伴性连锁矮小是由于GHR基因突变所致，点突变和片段缺失为两种主要方式。
The PCR products of suspected cases with the point mutation were further DNA sequenced so as to determine its mutation characters.
对疑有点突变的病例，进行DNA序列测定，以明确其具体的突变性质。
Suprisingly, a novel point mutation at codon 42 of K-ras was found, and coexisted with mutation in codon 12.
值得注意的是发现一个新的突变位点-密码子42，并且与密码子12突变共存。
The point mutation detection rate of hair follicles was higher than that of blood. So, hair follicles have the potent clinical application value for the genetic analysis of mitochondrial diseases.
毛球标本的线粒体点突变检测率高于血液，因此在线粒体相关疾病的基因分析中具有较高的临床应用价值。
Point mutation was produced in the cellular receptor binding region of hepatitis A virus VP1 based on PCR directed mutagenesis.
利用PCR引导的基因突变技术，对位于甲型肝炎病毒农壳蛋白VP1上的细胞受体结合区进行氨基酸定点突变。
The mutations in patients with factor V deficiency were identified including point mutation, frameshift mutation, deletion and insertion mutation.
本课题在对具有先天性出血倾向的门诊患者进行筛查的过程中，发现了一例重型凝血因子V缺乏症患者。
Based on the number of restriction enzyme detecting RFLPs, most of mutations were attributed to point mutation.
根据揭示多态性的限制性内切酶的数量可将产生的突变大多归为点突变。
AIM:To investigate the relationship between the point mutation of ABCB4 gene and intrahepatic cholestasis of pregnancy (ICP).
目的：探讨ABCB4基因点突变与妊娠期肝内胆汁淤积症（ICP）发病的关系。
ResultsThere was a single heterozygous point mutation in KRT10 gene, i. e. 2140 G→A of KRT10, leading to an amino acid alteration of arginine to histidine (KRT10 R156H).
结果该家系2例患者存在KRT10基因的杂合点突变，即在KRT10基因第2140位G→A，导致其第156位的精氨酸变为组氨酸（R156H）。
This single- point mutation engages the leg- ****** apparatus of the embryo fly to build a leg where its antenna should be .
这个单点突变搅乱了果蝇胚胎的足肢生成装置，在原本应该是触角的地方生出一条腿来。
Twenty cases(20/31) were selected randomly for DNA sequencing. No point mutation of ABCB4 gene exon 23 were detected.
随机挑选20例标本测定外显子23的DNA序列，未发现点突变。
Conclusion The site specific point mutation system can modify human gene in vitro more accurately. It is useful in the setting up of animal models.
结论体外定点突变系统可以对基因进行精细的修饰，为建立更精确地模拟人类疾病的动物模型打下基础。
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。
In a point mutation, a single letter of the genetic code changes to another letter.
在单位点突变种，一个遗传编码的字母换成了另外一个。
Objective To screen the point mutation at the codon 54(GGC54GAC) in the first exon of the mannan binding lectin (MBL) gene in Hans from Guangdong.
目的对广东地区汉族人群的甘露聚糖结合凝集素结构基因第一外显子第54位密码点突变（GGC54GAC）进行初步筛查。
Result:We had not found point mutation in all subjects.
结果：所有对象均未检测到点突变。
Objectives To investigate whether Parkinson disease (PD) is associated with genetic polymorphisms of catechol O methyltransferase (COMT) gene caused by the point mutation of G1947→A in exon 4.
目的探讨儿茶酚胺氧位甲基转移酶（COMT）基因G1947→A位点突变所致的基因多态性与帕金森病（PD）遗传易患性的关系。
Objective To investigate the relationship between the point mutation of ABCB4 gene exon 23 and the intrahepatic cholestasis of pregnancy (ICP).
目的：探讨ABCB4基因外显子23点突变与妊娠期肝内胆汁淤积症（ICP）发病的关系。
Applying RNase Protection assay, the point mutation in the RB gene was observed.
运用核酸酶保护试验观察RB基因的点突变现象。
Long term regular monitoring of ABL kinase point mutation is necessary during imatinib treatment.
定期监测ABL激酶区点突变有助于及早采取干预治疗，提高疗效。
In BCR-ABL fusion gene negative myeloproliferative diseases, the discovery of JAK2V617F point mutation is an important landmark.
在BCR-ABL阴性的骨髓增殖性疾病的发病机制中，JAK2V617F点突变的发现是一个重大的突破。
To reach this goal, the following ways such as chemical modification, gene fusion, point mutation and delivery systems revolution are reviewed.
综述了几种多肽药物常用的长效改造方法如化学修饰、基因融合、点突变以及药物制剂释放系统的改造。
Out of other 6 IMF patients without JAK2V617F point mutation only 1 patient had thrombosis, and lower counts of platelets in perepheral blood and megakaryocytes in bone marrow.
另6例JAK2V617F点突变阴性患者仅1例有血栓史，血小板数目及骨髓巨核细胞数目相对较低。
These results suggested that the nature of mutation on the DNA level was probably large geneic changes rather than point mutation.
研究显示，高能重离子辐射诱导的变异主要是DNA分子较大的改变，而非点突变。
点突变（point mutation）是DNA分子中单个核苷酸碱基对的改变，属于基因突变的最小单位。这类突变通常由DNA复制错误、化学诱变剂或辐射等因素引起，可能导致蛋白质结构或功能的改变，进而影响生物性状或引发疾病。
根据对遗传信息的影响，点突变可分为三种类型：
点突变的分子机制包括：
在医学研究中，点突变检测是遗传病诊断和癌症研究的重要手段。例如《新英格兰医学杂志》曾报道通过检测EGFR基因点突变可指导肺癌靶向治疗选择。当前基因测序技术（如Sanger测序和二代测序）能精准识别单碱基变异。
（参考资料：美国国家生物技术信息中心《基因突变分类》、Scitable《分子遗传学基础》、《自然》期刊癌症基因组学研究）
Point mutation（点突变）是遗传学中常见的突变类型，指DNA序列中单个核苷酸（碱基）发生改变的现象。以下是详细解释：
若某DNA序列原始为： $$ text{ATG CGA TAC} $$ 发生点突变（G→T）后变为： $$ text{ATG CTA TAC} $$ 这将改变对应的mRNA密码子（CGA→CUA），导致精氨酸→亮氨酸的错义突变。
点突变的最终影响取决于突变位置和类型，部分可能无害，部分则引发显著表型变化。
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