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基于发生机制的FLT3长度突变分型及其临床意义值得重视
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作者 张阳 周晓苏 刘红星 《白血病.淋巴瘤》 CAS 2024年第6期329-333,共5页
FLT3内部串联重复(ITD)突变是急性髓系白血病中常见的基因突变, 具有重要的预后分层和靶向治疗指导意义。随着高通量测序技术的广泛应用和对突变序列分析能力的提升, 发现超过半数的FLT3-ITD突变并不只是单纯的串联重复, 还伴有非模板... FLT3内部串联重复(ITD)突变是急性髓系白血病中常见的基因突变, 具有重要的预后分层和靶向治疗指导意义。随着高通量测序技术的广泛应用和对突变序列分析能力的提升, 发现超过半数的FLT3-ITD突变并不只是单纯的串联重复, 还伴有非模板序列添加等复杂情况。近期的研究揭示了FLT3长度突变(FLT3-LM)的序列特征、发生机制及相关临床预后意义。伴非模板序列添加的FLT3-LM由异常活化的末端脱氧核苷酸转移酶参与形成, 这部分患者在化疗、靶向治疗和异基因造血干细胞移植治疗时表现出不同的治疗反应和预后。这为更精准理解FLT3-LM提供了新的视角, 同时提出了基于发生机制的FLT3-LM分型建议。新的分型规则更能体现疾病生物学特征的差异, 更精准地指导FLT3-LM患者的预后分层和个体化治疗方案的制订。 展开更多
关键词 白血病 FLT3内部串联重复突变 FLT3长度突变 DNTT 末端脱氧核苷酸转移酶
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Relaxation Property and Stability Analysis of the Quasispecies Models
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作者 FEGN Xiao-Li LI Yu-Xiao +1 位作者 GU Jian-Zhong ZHUO Yi-Zhong 《Communications in Theoretical Physics》 SCIE CAS CSCD 2009年第10期726-734,共9页
The relaxation property of both Eigen model and Crow-Kimura model with a single peak fitness landscape is studied from phase transition point of view. We first analyze the eigenvalue spectra of the replication mutatio... The relaxation property of both Eigen model and Crow-Kimura model with a single peak fitness landscape is studied from phase transition point of view. We first analyze the eigenvalue spectra of the replication mutation matrices. For sufficiently long sequences, the almost crossing point between the largest and seeond-largest eigenvalues locates the error threshold at which critical slowing down behavior appears. We calculate the critical exponent in the limit of infinite sequence lengths and compare it with the result from numerical curve fittings at sufficiently long sequences. We find that for both models the relaxation time diverges with exponent 1 at the error (mutation) threshold point. Results obtained from both methods agree quite well. From the unlimited correlation length feature, the first order phase transition is further confirmed. Finally with linear stability theory, we show that the two model systems are stable for all ranges of mutation rate. The Igigen model is asymptotically stable in terms of mutant classes, and the Crow-Kimura model is completely stable. 展开更多
关键词 relaxation time critical exponent error threshold
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梨属叶绿体非编码区trnL-trnF和accD-psaI特征及其在系统发育研究中的应用价值 被引量:18
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作者 胡春云 郑小艳 滕元文 《园艺学报》 CAS CSCD 北大核心 2011年第12期2261-2272,共12页
对梨属19个种共26个供试样本及两个苹果属外类群样本的叶绿体非编码区trnL-trnF和accD-psaI进行了序列分析。排列后的序列长度分别为927 bp和944 bp。两个区域组合后共有36个核苷酸替换(substitution)和11个插入/缺失(indel)。将所有in... 对梨属19个种共26个供试样本及两个苹果属外类群样本的叶绿体非编码区trnL-trnF和accD-psaI进行了序列分析。排列后的序列长度分别为927 bp和944 bp。两个区域组合后共有36个核苷酸替换(substitution)和11个插入/缺失(indel)。将所有indel处理为一次变异事件并编码为替换,用于简约法系统树和NeighborNet系统发育网络(phylogenetic networks)的构建。研究结果表明:indel为系统发育分析提供了可靠的信息;相比trnL-trnF,accD-psaI因进化速率较快,更适合应用于种及种以下分类水平的梨属植物系统关系研究;NeighborNet系统发育网络表明系统树上部分较低的分支支持率由冲突的信息引起,其余则由信息位点不足引起。此外结果还揭示了可疑种间杂交种的母系祖先。 展开更多
关键词 梨属 TRNL-TRNF accD-psaI 长度突变 系统关系
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An automated fluorescent single strand conformation polymorphism technique for high throughput mutation screening
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作者 翁建平 《Chinese Medical Journal》 SCIE CAS CSCD 2001年第11期27-30,104,共5页
Objective To develop a high throughput mutational detection method by mutiple fluorescence-labeled polymerase chain reaction(PCR)products.Methods A total of 27 known mutations including 22 substitutions,3 insertions(1... Objective To develop a high throughput mutational detection method by mutiple fluorescence-labeled polymerase chain reaction(PCR)products.Methods A total of 27 known mutations including 22 substitutions,3 insertions(1,2 and 7 bp)and 2 deletions(1 and 2 bp)in the hepatocyte nuclear factor(HNF)-4α,glucokinase and HNF-1α genes were tested.During nested PCR,amplified fragments were labeled with three fluorescent dyes.PCR products were visualized with an ABI-377 fluorescence sequencer using 5% glycerol or 10% sucrose in nondenaturing gel conditions.Results Twenty-five of 27 variants(93%)could be detected by combining 5% glycerol and 10% sucrosegel matrix conditions.Twenty-two of 27(82%)and 18 of 27(67%)variants were identified using 5%glycerol and 10% sucrose conditions,respectively.Conclusion This fluorescence-based PCR single strand conformation polymorphism technique represents a simple,non-hazardous,time-saving and sensitive method for high throughput mutation detection. 展开更多
关键词 genetics ·mutation · single strand conformation polymorphism ·electrophoresis · fluorescent label
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