期刊文献+
共找到12篇文章
< 1 >
每页显示 20 50 100
原发性扩张型心肌病的线粒体tRNA基因突变分析
1
作者 李红超 舒红英 +4 位作者 李晓杰 倪斌 谢海龙 周海燕 倪崖 《激光生物学报》 CAS 2015年第6期539-544,共6页
为寻找原发性扩张型心肌病病例是否存在已知以及未知的线粒体tRNA致病性突变,以探讨扩张型心肌病可能的发病原因。收集2例原发性扩张型心肌病患者和10例正常对照尸检心肌组织石蜡标本,针对22种线粒体tRNA基因分别设计一对引物,PCR扩增... 为寻找原发性扩张型心肌病病例是否存在已知以及未知的线粒体tRNA致病性突变,以探讨扩张型心肌病可能的发病原因。收集2例原发性扩张型心肌病患者和10例正常对照尸检心肌组织石蜡标本,针对22种线粒体tRNA基因分别设计一对引物,PCR扩增后并测序分析线粒体tRNA基因突变情况。结果在对照样本中未检测到线粒体tRNA变异位点,在1例患者中检测到了tRNA^(Val)基因G1664A变异,Mitomap已有报道为多态性位点;于另1例患者中检测到tRNA^(Met)T4454C变异,有文章报道该位点与线粒体功能障碍有关,Mitomap报道为多态性位点。本研究中2例病例中未检测到线粒体tRNA致病性突变位点,可能与病例个体的心衰程度有关,有必要扩大样本量深入研究线粒体tRNA以及mt DNA其他基因突变与原发性扩张型心肌病之间的关系,以寻找可能的致病突变位点、易感的多态性位点或者单倍体群,为认识原发性扩张型心肌病的发病机制进一步提供理论基础和依据。 展开更多
关键词 扩张型心肌病 线粒体trna基因
下载PDF
暗纹东方鲀线粒体若干tRNA基因的克隆及序列分析 被引量:2
2
作者 邵爱华 叶亚新 +1 位作者 王金虎 朱江 《苏州科技学院学报(自然科学版)》 CAS 2006年第4期37-42,共6页
利用分离纯化的暗纹东方鲀肝脏mtDNA为模板,按照红鳍东方鲀(Takifugu rubripes)mtDNA序列设计合成特异引物进行PCR扩增,首次克隆并测定了暗纹东方鲀mtDNA的Cytb、COI、COII、COIII、D-loop等5个重要基因及其侧翼的8个tRNA基因。上述基... 利用分离纯化的暗纹东方鲀肝脏mtDNA为模板,按照红鳍东方鲀(Takifugu rubripes)mtDNA序列设计合成特异引物进行PCR扩增,首次克隆并测定了暗纹东方鲀mtDNA的Cytb、COI、COII、COIII、D-loop等5个重要基因及其侧翼的8个tRNA基因。上述基因均已在GenBank登录。8个tRNA基因含有69~72个碱基。推定了各个tRNA的二级结构并进行了初步的序列分析。结果表明:8个tRNA基因具有较为典型的三叶草型结构,各臂的碱基配对率大多数较高,稳定性较好。 展开更多
关键词 暗纹东方鲀 线粒体trna基因 二级结构
下载PDF
深圳地区2型糖尿病线粒体tRNA基因组突变分析
3
作者 叶艺艺 庄雄杰 +1 位作者 桑丹 蒋凤秀 《中国优生与遗传杂志》 2018年第2期25-28,12,共5页
目的探讨线粒体tRNA基因突变和深圳地区2型糖尿病之间的关系,为2型糖尿病的分子诊断提供理论依据。方法选取2015年1月到2017年1月在深圳市XX医院就诊的被诊断为2型糖尿病的患者300人,同时选取150例性别和年龄相仿的正常人群作为对照组,... 目的探讨线粒体tRNA基因突变和深圳地区2型糖尿病之间的关系,为2型糖尿病的分子诊断提供理论依据。方法选取2015年1月到2017年1月在深圳市XX医院就诊的被诊断为2型糖尿病的患者300人,同时选取150例性别和年龄相仿的正常人群作为对照组,采用PCR扩增22个线粒体tRNA基因并进行测序分析,测序结果和线粒体的标准序列进行比对,确定突变位点并做相关性分析。结果在这些患者中,我们发现存在4个致病性的线粒体tRNA突变位点:tRNA^(Leu(UUR))A3243G,tRNA^(Met) A4435G,tRNA^(Glu) A14692G和tRNA^(Thr) G15927A,这些突变位于进化上高度保守的区域,可能会影响线粒体tRNA代谢,导致线粒体蛋白合成受阻,引起线粒体功能障碍,进而参与了2型糖尿病的发病进程。结论线粒体tRNA基因突变可能是2型糖尿病的重要发病基础,具有重要的临床意义。 展开更多
关键词 2型糖尿病 线粒体trna基因 突变 深圳地区
原文传递
人类线粒体tRNAs基因在CagA阳性Hp培养滤液诱导转化的胃上皮细胞中表达 被引量:1
4
作者 陈洁平 沈鼎明 杨致邦 《第三军医大学学报》 CAS CSCD 北大核心 2001年第9期1039-1042,共4页
目的 研究CagA阳性Hp培养滤液对人胃粘膜上皮细胞 (GES 1)作用的机制。方法 将CagA阳性Hp培养滤液诱导恶性转化的GES 1细胞与CagA阴性Hp培养滤液处理的GES 1细胞进行mRNA差异显示 ,以寻找Hp致胃癌发病的相关基因。结果mRNA差异显示片... 目的 研究CagA阳性Hp培养滤液对人胃粘膜上皮细胞 (GES 1)作用的机制。方法 将CagA阳性Hp培养滤液诱导恶性转化的GES 1细胞与CagA阴性Hp培养滤液处理的GES 1细胞进行mRNA差异显示 ,以寻找Hp致胃癌发病的相关基因。结果mRNA差异显示片断之一命名为PFN2 ,仅在Hp(CagA+ )培养滤液处理的GES 1细胞中表达 ,斑点杂交结果与之一致。与GeneBank资料序列同源性比较分析提示PFN2与人类线粒体tRNAs同源性 10 0 % ,即为人类线粒体tRNAs基因的一部分。结论 人类线粒体tRNAs基因可能参与了Hp的CagA诱导的胃上皮细胞恶性转化过程。 展开更多
关键词 幽门螺杆菌 CAGA基因 胃粘膜上皮细胞 线粒体trnas基因 胃癌
下载PDF
线粒体tRNA亮氨酸基因第3251位点A到G点突变致线粒体肌病伴高乳酸血症1家系报告
5
作者 郭雯琪 任可欣 +1 位作者 曹华 王迎新 《中风与神经疾病杂志》 CAS 2021年第11期1025-1027,共3页
线粒体tRNA亮氨酸基因(mitochondrial tRNALeu(UUR)gene(UUR,R=A or G),MT-TL1,OMIM:590050)突变能够导致线粒体疾病。MT-TL1包含线粒体DNA(mitochondrial DNA,mtDNA)第3230-3304碱基对。目前已经发现的MT-TL1的致病性点突变有:3242 G&g... 线粒体tRNA亮氨酸基因(mitochondrial tRNALeu(UUR)gene(UUR,R=A or G),MT-TL1,OMIM:590050)突变能够导致线粒体疾病。MT-TL1包含线粒体DNA(mitochondrial DNA,mtDNA)第3230-3304碱基对。目前已经发现的MT-TL1的致病性点突变有:3242 G>A,3243 A>G,3249 G>A,3250 T>C,3251 A>G,3256 C>T,3260 A>G,3271 T>C,3274 A>C,3290 T>C,3303 C>T等[1~12]。 展开更多
关键词 线粒体trna亮氨酸基因 线粒体肌病 心动过速 乳酸酸中毒 糖尿病
下载PDF
A Novel Conservation Structure Found in Vertebrate Mitochondrial tRNA ̄(phe) Gene 被引量:1
6
作者 米志勇 刘兰香 +1 位作者 王钢锋 吴乃虎 《Developmental and Reproductive Biology》 1996年第1期7-12,共6页
The nucleotide scquence of tRNAphe gene of Carp mitochondria was determined. Sequence comparisons made among Whale,Human,Xenopus laevis, Bovine, Mouse,Chicken and Carp revealed a novel conservative structure in the D.... The nucleotide scquence of tRNAphe gene of Carp mitochondria was determined. Sequence comparisons made among Whale,Human,Xenopus laevis, Bovine, Mouse,Chicken and Carp revealed a novel conservative structure in the D. stem (dihydrouridine stem),which is known to vary in other vertebrate mitochondrial and eytoplasmic tRNA genes.This conservative structure contains 13 bp. When the first 7 bp of the conserviative structure were compared with the A domain recognized by RNA Pol III, we noticed partial homology between these two kinds of sequences among different species. In view of the tRNAphe gene's close position to the D loop,it is reasonable to expect extraordinary functions in this novel conservation structure. 展开更多
关键词 CARP mitochondria trna ̄(phe)gene
下载PDF
Mitochondrial rRNA and tRNA and hearing function 被引量:20
7
作者 Guangqian Xing Zhibin Chen Xin Cao 《Cell Research》 SCIE CAS CSCD 2007年第3期227-239,共13页
The human ear is a delicate sensory apparatus of hearing for normal communication, and its proper functioning is highly dependent on mitochondrial oxidative phosphorylation. The first mitochondrial point mutation for ... The human ear is a delicate sensory apparatus of hearing for normal communication, and its proper functioning is highly dependent on mitochondrial oxidative phosphorylation. The first mitochondrial point mutation for nonsyndromic and aminoglycoside-induced hearing loss was identified in 1993. Since then a number of inherited mitochondrial mutations have been implicated in hearing loss. Most of the molecular defects responsible for mitochondrial disorder-associated hearing loss are mutations in the 12S rRNA gene and tRNA genes. In this review, after a short description of normal hearing mechanisms and mitochondrial genetics, we outline the recent advances that have been made in the identification of deafness-associated mitochondrial mutations, and discuss how mitochondrial dysfunction contributes to hearing loss. 展开更多
关键词 mitochondrial DNA RRNA trna gene mutation AMINOGLYCOSIDES hearing loss
下载PDF
Isolation and Purification of Carp Mitochondrial DNA and Structural Analysis of Its tRNA^(Cys) Gene and the Light Strand Origin
8
作者 吴乃虎 周立伟 +2 位作者 王钢峰 阎景智 冯羽 《Developmental and Reproductive Biology》 1993年第2期1-9,共9页
A new method is presented with which we isolated milochondrial DNA from fresh carp liver usingdifferential centrifugation and DNase treatment that gave high yield of purified product with an easyand economical procedu... A new method is presented with which we isolated milochondrial DNA from fresh carp liver usingdifferential centrifugation and DNase treatment that gave high yield of purified product with an easyand economical procedure. Highly distinct bands were displayed in agarose gel electrophoresls ofthe product digested with restrictlon enzymes, which were successfully used in constructingrestriction map and molecular clone of mitochondrial genes. With DNAs thus obtained, we havecloned cysteine tRNA gene (tRNA^(Cys) gene) of carp mitochondria, determined the nucleotide sequenceof it and the light strand origin, and depicted the cloverleaf secondary structure of tDNA^(Cya) and thelight strand origin. Analysis of nucleotide sequences of tRNA^(Cy) genes of 5 vertebrates has revealedunusual features of carp mitochondrial tRNA^(Cy) gene as compared with their cytoplasmic counter-parts, Altogether 36 bases were found in the light strand origin of carp mitochondriaf: 11 pairs in thestem; and 14 bases in the loop. As compared with those of other 11 vertebrate species, the sequenceof the stem is very conservative while both sequence and length of the loop are quite variable. Thestructure of the stem-loop may play an important role in light strand replication. 展开更多
关键词 Mitochondrial DNA (mtDNA) trna^(Cys) Gene Light Strand Origin Sequence Analysis
下载PDF
Preliminary analysis of the mitochondrial genome evolutionary pattern in primates
9
作者 Liang ZHAO Xingtao ZHANG +2 位作者 Xingkui TAO Weiwei WANG Ming LI 《Zoological Research》 CAS CSCD 北大核心 2012年第4期I0019-I0028,共10页
Since the birth of molecular evolutionary analysis, primates have been a central focus of study and mitochondrial DNA is well suited to these endeavors because of its unique features. Surprisingly, to date no comprehe... Since the birth of molecular evolutionary analysis, primates have been a central focus of study and mitochondrial DNA is well suited to these endeavors because of its unique features. Surprisingly, to date no comprehensive evaluation of the nucleotide substitution patterns has been conducted on the mitochondrial genome of primates. Here, we analyzed the evolutionary patterns and evaluated selection and recombination in the mitochondrial genomes of 44 Primates species downloaded from Genl3ank. The results revealed that a strong rate heterogeneity occurred among sites and genes in all comparisons. Likewise, an obvious decline in primate nucleotide diversity was noted in the subunit rRNAs and tRNAs as compared to the protein-coding genes. Within 13 protein-coding genes, the pattern of nonsynonymous divergence was similar to that of overall nucleotide divergence, while synonymous changes differed only for individual genes, indicating that the rate heterogeneity may result from the rate of change at nonsynonymous sites. Codon usage analysis revealed that there was intermediate codon usage bias in primate protein-coding genes, and supported the idea that GC mutation pressure might determine codon usage and that positive selection is not the driving force for the codon usage bias. Neutrality tests using site-specific positive selection from a Bayesian framework indicated no sites were under positive selection for any gene, consistent with near neutrality. Recombination tests based on the pairwise homoplasy test statistic supported complete linkage even for much older divergent primate species. Thus, with the exception of rate heterogeneity among mitochondrial genes, evaluating the validity assumed complete linkage and selective neutrality in primates prior to phylogenetic or phylogeographic analysis seems unnecessary. 展开更多
关键词 Mitochondrial genome Evolutionary pattem Codon usage bias Complete linkage Evolution neutrality PRIMATES
下载PDF
Characterization of mitochondrial genome of sea cucumber Stichopus horrens:A novel gene arrangement in Holothuroidea 被引量:4
10
作者 FAN SiGang HU ChaoQun +1 位作者 WEN Jing ZHANG LvPing 《Science China(Life Sciences)》 SCIE CAS 2011年第5期434-441,共8页
The complete mitochondrial DNA sequence contains useful information for phylogenetic analyses of metazoa. In this study, the complete mitochondrial DNA sequence of sea cucumber Stichopus horrens (Holothuroidea: Sdch... The complete mitochondrial DNA sequence contains useful information for phylogenetic analyses of metazoa. In this study, the complete mitochondrial DNA sequence of sea cucumber Stichopus horrens (Holothuroidea: Sdchopodidae: Stichopus) is presented. The complete sequence was determined using normal and long PCRs. The mitochondrial genome of Stichopus horrens is a circular molecule 16257 bps long, composed of 13 protein-coding genes, two ribosomal RNA genes and 22 transfer RNA genes. Most of these genes are coded on the heavy strand except for one protein-coding gene (had6) and five tRNA genes (tRNAser(UcN), tRNAGtn, tRNAAla, tRNA val, tRNAASp) which are coded on the light strand. The composition of the heavy strand is 30.8% A, 23.7% C, 16.2% G, and 29.3% T bases (AT skew=0.025; GC skew=-0.188). A non-coding region of 675 bp was identified as a putative control region because of its location and AT richness. The intergenic spacers range from 1 to 50 bp in size, totaling 227 bp. A total of 25 overlapping nucleotides, ranging from 1 to 10 bp in size, exist among 11 genes. All 13 protein-coding genes are initiated with an ATG. The TAA codon is used as the stop codon in all the protein coding genes ex- cept nad3 and nad4 that use TAG as their termination codon. The most frequently used amino acids are Leu (16.29%), Ser (10.34%) and Phe (8.37%). All of the tRNA genes have the potential to fold into typical cloverleaf secondary structures. We also compared the order of the genes in the mitochondrial DNA from the five holothurians that are now available and found a novel gene arrangement in the mitochondrial DNA of Stichopus horrens. 展开更多
关键词 complete mitochondriai DNA Stichopus horrens gene arrangement HOLOTHUROIDEA
原文传递
发育性癫痫性脑病75型家系的遗传学分析 被引量:5
11
作者 路曼 杨科 +6 位作者 娄桂予 秦利涛 霍晓东 祁娜 雷星星 李聪敏 廖世秀 《中华实用诊断与治疗杂志》 2022年第1期1-4,共4页
目的分析1个发育性癫痫性脑病75型(developmental and epileptic encephalopathy 75, DEE75)家系3例患儿的临床特征,探讨该家系线粒体脯氨酰tRNA合成酶2(prolyl-tRNA synthetase 2, mitochondrial,PARS2)基因突变情况。方法分析该DEE75... 目的分析1个发育性癫痫性脑病75型(developmental and epileptic encephalopathy 75, DEE75)家系3例患儿的临床特征,探讨该家系线粒体脯氨酰tRNA合成酶2(prolyl-tRNA synthetase 2, mitochondrial,PARS2)基因突变情况。方法分析该DEE75家系3例患儿(先证者及其哥哥、弟弟)的临床资料;对先证者及其父母进行全外显子组测序,对鉴定出的可疑致病突变在先证者及其弟弟、父母中采用Sanger测序法进行验证;对未报道的可疑致病突变进行生物信息学分析、蛋白质结构模型预测。结果该家系3例患儿均存在小头畸形、发育迟缓、智力障碍等表型,先证者哥哥有癫痫表现。先证者及其弟弟均存在PARS2基因c.283G>A(p.Val95Ile)、c.664A>G(p.Thr222Ala)及c.1059A>C(p.Glu353Asp)复合杂合错义突变,先证者母亲存在c.283G>A错义突变,先证者父亲存在c.664A>G及c.1059A>C错义突变。生物信息学分析显示c.664A>G及c.1059A>C为未报道的可能有害突变。蛋白质结构预测显示c.664A>G可能破坏蛋白质结构和功能而致病,c.1059A>C对蛋白质结构无明显影响。结论 PARS2基因c.283G>A及c.664A>G复合杂合错义突变可能是该家系DEE75患儿的致病原因。 展开更多
关键词 发育性癫痫性脑病75型 线粒体脯氨酰trna合成酶2基因 全外显子组测序 生物信息学分析
原文传递
Complete mitochondrial genome of Nanorana pleskei (Amphibia: Anura: Dicroglossidae) and evolutionary characteristics 被引量:1
12
作者 Guiying CHEN Bin WANG +2 位作者 Jiongyu LIU Feng XIE Jianping JIANG 《Current Zoology》 SCIE CAS CSCD 北大核心 2011年第6期785-805,共21页
The complete mitochondrial genome of Nanorana pleskei from the Qinghai-Tibet Plateau was sequenced. It includes 17,660 base pairs, containing 13 protein-coding genes, two rRNAs and 23 tRNAs. A tandem duplication of tR... The complete mitochondrial genome of Nanorana pleskei from the Qinghai-Tibet Plateau was sequenced. It includes 17,660 base pairs, containing 13 protein-coding genes, two rRNAs and 23 tRNAs. A tandem duplication of tRNAu^t gene was found in this mitochondrial genome, and the similarity between the two tRNAMet genes is 85.8%, being the highest in amphibian mitochondrial genomes sequenced thus far. Based on gene organization, 24 types were found from 145 amphibian mitochondrial genomes. Type 1 was present in 108 species, type 11 in 11 species, types 5, 16, 17, and 20 each in two species, and the others each present in one species. Fifteen types were found in Anura, being the most diversity in three orders of the Lissamphibia. Our phylogenetic results using 11 protein-coding gene sequences of 145 amphibian mitochondrial genomes strongly support the mo- nophyly of the Lissamphibia, as well as its three orders, the Gymnophiona, Caudata, and Anura, among which the relationships were ((Gymnophiona (Caudata, Anura)). Based on the phylogenetic trees, type 1 was recognized as the ancestral type for am- phibians, and type 11 was the synapomorphic type for the Neobatrachia. Gene rearrangements among lineages provide meaning- ful phylogenetic information. The rearrangement of the LTPF tRNA gene cluster and the translocation of the ND5 gene only found in the Neobatrachia support the monophyly of this group; similarly, the tandem duplication of the tRNAMet genes only found in the Dicroglossidae support the monophyly of this family 展开更多
关键词 Nanorana pleskei Complete rnitochondrial genome Tandem duplication of trnaMet genes Mitochondrial genometype PHYLOGENETIC AMPHIBIA
原文传递
上一页 1 下一页 到第
使用帮助 返回顶部