突变发生

测序结果表明，突变发生在141930碱基处，为C转换T。

The sequencing results showed that the mutation was C → T in position 141930 .

从突变发生的位点来看，大部分的突变都发生在CpG岛，这再次表明在真核生物基因组DNA内CpG岛是突变的主要发生位点。

Most mutations is in the CpG island , which indicate again that the CpG island is the dominant mutation region in the eukaryotic genomic DNA .

hpal突变体的点突变发生在编码磷酸组氨醇氨基转移酶基因（HPA）上。

The hpal mutant carries a point mutation in a histidinol phosphate aminotransferase ( HPA ) gene .

一个突变发生在SRY基因的5′端HMG盒外的核苷酸第113位腺嘌呤（A）被鸟嘌呤（G）取代，并导致谷氨酸被甘氨酸替换；

An A was replaced by a G in codon 38 upstream of the 5 ′ border outside the HMG box of the SRY gene , resulting in the replacement of the amino acid glutamate by glycine .

dystrophin基因全长超过2500kb，是迄今为止发现的人类最大基因，其突变发生率高，形式多样。

Spanning over 2500 kb , dystrophin gene is the largest human gene that people have found up to now . It has high mutation rate and multiple mutation forms .

在多数肿瘤中最常见的点突变发生于外显子5～8，在人喉鳞状细胞癌（ISCC）中亦如此。

Point mutations in exons 5-8 occur frequently in many human tumors including human laryngeal squamous cell carcinoma ( LSCC ) and are extensively studied .

EBS的各个亚型突变发生部位有一定差异，其中Weber－Cockayne亚型（WC－EBS）突变多位于K5／K14的连接区L1－2。

There were some difference of mutation spots among every subtype of EBS . For example , the mutations mainly located in Linker 1 2 domain of K5 / 14 in Weber Cockayne EBS ( WC EBS ) .

目的对中国早发及多发糖尿病患者进行转录因子1（Transcriptionfactor1，TCF1，HNF-1A）基因筛查以了解中国人早发及多发糖尿病家系中TCF1基因突变发生情况及突变携带者临床特征。

Objective To investigate the genetic and clinical features of mutations and sequence variations of the transcription factor 1 gene ( TCF1 , HNF-1A ) in Chinese with familial early-onset and / or multiplex diabetes mellitus .

结果：①大肠癌组织p14ARF总变异率为27%（15/56），其中1例纯合性缺失，14例5′CpG岛甲基化，未见突变发生。

RESULTS : ① p14 ~ ARF alterations were detected in 27 % ( 15 / 56 ) of colorectal carcinoma tissues studied , of which 1 case showed homozygous deletion , 14 cases showed 5 ′ CpG island methylation , and no mutation was found in any tumor .

在对8个家系93名相关个体的分析中，没有发现突变发生。

No mutation in93 individuals of8 families was observed .

两个突变发生在同一基因内的抑制，叫基因内抑制。

Suppression is called intragenic when both mutations are within the same gene .

在第7外显子中未检测出突变发生。

No mutation in exon 7 was detected .

联合突变发生率为23.4%。

The combined mutation rate was 23.4 % .

第7外显子的突变发生在249位密码子第3号碱基上，为G：C→T：A的颠换突变；

Single base transvertion occurred at codon 249 in exon 7 : G : C → T : A.

同白内障相关的晶状体蛋白基因突变发生在所有三个晶状体蛋白家族中（α-，β-和γ-晶状体蛋白），并显示为不同的表型。

Cataract-associated mutations in the crystallin genes are known to occur in all three crystallin families and show a variety of phenotypes .

分析这些变异胚胎说明了突变发生在手足成形和中轴骨骼形成过程中，然而显著的缺陷是在近尾部形成。

Analysis of these mutant embryos reveals variable , yet striking defects in caudal specification , limb patterning and axial skeleton formation .

当这些基因突变发生在的特殊细胞中，突变产生不段产生，保持下去。

When these genes are mutated the particular cell in which the mutation has arose doesn 't stop growing , it keeps going .

1850年以前整个高原和新疆地区在准110年尺度上存在着比较一致的干湿变化，而19世纪末期突变发生后，高原北部和新疆地区的干湿变化存在偶极子的位相关系。

After the climatic abrupt change of the end of 19th century , the north part of the Plateau and Xinjiang show a relationship of dipole .

此外，还发现突变发生时刻总是早于工作台宏观运动时刻，这一提前量还需要进一步研究。

It is also found that the sudden change in the servo current always appears ahead of macroscopic movement of the worktable , which needs further study .

取得如下认识：1.震前形变能的演化过程是不稳定过程，2.形变能的突变发生在非平衡区；

The following results are obtained , 1.The evolution process of deformation energy before an earthquake is unstable ; 2.Sudden changes of deformation energy occur in unbalanced area ;

从突变发生的靶基因的表达情况来看，24%（6/25）的突变发生在表达的靶基因区域，76%（19/25）的突变发生在沉默状态的靶基因区域。

Analysis of the expression state of mutant genes showed that 24 % ( 6 / 25 ) is expression target genes and 76 % mutation is silence target genes .

该方法可以准确判定负荷突变发生时刻，提高了异步电动机转子断条故障检测的可靠性及准确性。

It can determine exactly the occurrence time of sudden load change , which improves the reliability and accuracy of rotor bar break fault detection for squirrel cage asynchronous motor .

异柠檬酸脱氢酶1的作用是催化异柠檬酸转变为酮戊二酸；当突变发生在异柠檬酸脱氢酶1活性基团的一个单一的氨基酸上，将导致这个酶活性的丧失。

These mutations occur at a single amino acid residue of the IDH1 active site , resulting in loss of the enzyme 's ability to catalyse conversion of isocitrate to α - ketoglutarate .

年代际变化是该区域海气相互作用的主要时域特征，突变发生在1970年代后半期，1月的年代际变化早于7月的1～2年；

Interdecadal variation is chiefly temporal characteristics of air-sea interactions in this area , with " sudden change " taking place in the late 1970 's with 1 ~ 2 years earlier in January than in July ;

绝大多数年份季风建立时有环流突变发生，但也有少数年份呈调和变化或二次突变。

The onset of summer monsoon in South China Sea region is characterized by the abrupt change of flow field in most years , but a few years characterized by harmonic change ( no abrupt transition ) .

从程序视角来看待生命进化现象，拉马克的用进废退进化机制和达尔文的自然选择进化机制都有其程序实现的基础，只不过它们的基因突变发生的时间和起因不同罢了。

To study the phenomenon of the evolution of life from a program perspective , both Lamarckian " use and disuse " evolutionary mechanisms and Darwin the " natural selection " evolutionary mechanism have their program realization foundation , only their genetic mutation occurred time and cause are different .

气候突变发生在1972年，1972年以后年平均气温距平值由1972年以前的-0.36℃上升为0.22℃。

There still exists a long-term tendency and an obvious abrupt climate change that occurred in 1972 in the time series of the Tumen River basin air temperature . After 1972 , the anomalous annual mean temperature rose from ( - 0.36 ℃) before its abrupt change to 0.22 ℃ .

碱基突变多发生在G→A、T→C。

The mutation of base largely occurred on G-A , T-C .

肿瘤发生的遗传机制；体细胞突变的发生机制；DNA修复，基因组学与分子医学。

Cancer genetics , somatic mutagenesis , DNA repair , genomics and molecular medicine .

检出的由单个碱基替换而导致的无义突变都发生在CpG岛，表现为C向T的转换。

All of four nonsense mutations resulted from C to T transitions at CpG sites .