AIM: In order to obtain lymphogenous metastasisassociated genes, we compared the transcriptional profiles of mouse hepatocarcinoma cell lines Hca-F with highly lymphatic metastasis potential and Hca-P with low lymphat...AIM: In order to obtain lymphogenous metastasisassociated genes, we compared the transcriptional profiles of mouse hepatocarcinoma cell lines Hca-F with highly lymphatic metastasis potential and Hca-P with low lymphatic metastasis potential.METHODS: Total RNA was isolated from Hca-F and Hca-P cells and synthesized into double-stranded cDNA. In vitro transcription double-stranded cDNA was labeled with biotin (i.e. biotin-labeled cRNA, used as the probe). The cRNA probes hybridized with Affymetrix GeneChip() MOE430A (containing 22 690 transcripts, including 14 500 known mouse genes and 4 371 ESTs) respectively and the signals were scanned by the GeneArray Scanner. The results were then analyzed by bioinformatics.RESULTS: Out of the 14 500 known genes investigated,110 (0.8%) were up regulated at least 23 fold. Among the total 4 371 ESTs, 17 ESTs (0.4%) (data were not presented) were up regulated at least 23 fold. According to the Gene Ontology and TreeView analysis, the 110genes were further classified into two groups: differential biological process profile and molecular function profile.CONCLUSION: Using high-throughput gene chip method,a large number of genes and their cellular functions about angiogenesis, cell adhesion, signal transduction, cell motility, transport, microtubule-based process, cytoskeleton organization and biogenesis, cell cycle, transcription,chaperone activity, motor activity, protein kinase activity,receptor binding and protein binding might be involved in the process of lymphatic metastasis and deserve to be used as potential candidates for further investigation.Cyclin D1, Fosl1, Hsp47, EGFR and AR, and Cav-1 are selected as the possible candidate genes of the metastatic phenotype, which need to be validated in later experiments.ESTs (data were not presented) might indicate novel genes associated with lymphatic metastasis. Validating the function of these genes is helpful to identify the key or candidate gene/pathway responsible for lymphatic metastasis, which might be used as the diagnostic展开更多
We recovered the phylogenetic relationships among 23 species and subspecies of the highly special-ized grade schizothoracine fishes distributing at 36 geographical sites in the Tibetan Plateau and its surrounding regi...We recovered the phylogenetic relationships among 23 species and subspecies of the highly special-ized grade schizothoracine fishes distributing at 36 geographical sites in the Tibetan Plateau and its surrounding regions by analyzing sequences of cytochrome b genes. Furthermore, we estimated the possible divergent times among lineages based on a historical geological isolation event in the Tibetan Plateau. The molecular data revealed that the highly specialized grade schizothoracine fishes were not a monophyletic group, but were the same as genera Gymnocypris and Schizogypsis. Our results indi-cated that the molecular phylogenetic relationships apparently reflected their geographical and historical associations with drainages, namely species from the same and adjacent drainages clustered together and had close relationships. The divergence times of different lineages were well consistent with the rapid uplift phases of the Tibetan Plateau in the late Cenozoic, suggesting that the origin and evolution of schizothoracine fishes were strongly influenced by environment changes resulting from the upheaval of the Tibetan Plateau.展开更多
目的通过临床病例及文献复习,了解神经母细胞瘤扩增序列(NBAS)基因突变相关的儿童急性肝衰竭临床特征,探讨该病的治疗措施和预后情况。方法对1例NBAS基因突变致儿童复发性肝衰竭的临床病例进行整理报道;以“急性肝衰竭”“NBAS”“婴儿...目的通过临床病例及文献复习,了解神经母细胞瘤扩增序列(NBAS)基因突变相关的儿童急性肝衰竭临床特征,探讨该病的治疗措施和预后情况。方法对1例NBAS基因突变致儿童复发性肝衰竭的临床病例进行整理报道;以“急性肝衰竭”“NBAS”“婴儿肝衰竭综合征2型”为关键词,对中国期刊全文数据库、万方数据知识服务平台进行检索,以“acute liver failure”“NBAS”为关键词,对Web of Science数据库、PubMed进行检索,对数据库建库至2023年1月收录的文献进行复习,总结该病发病机制、临床特征、治疗及预后。结果患儿,男,8月龄至1岁4月龄间发生急性肝衰竭3次,病初有呼吸道感染病史,后出现发热、呕吐、精神萎靡,入院辅助检查提示谷丙转氨酶、谷草转氨酶异常升高,凝血功能障碍。高通量测序发现患儿存在NBAS基因c.1857G>T(p.G619G)/c.3596G>A(p.C1199Y)复合杂合变异。入院后予低脂低蛋白饮食、保肝降酶、白蛋白补充、人纤维蛋白原及凝血酶原复合物补充、维生素K1补充、抗感染等治疗,好转出院。现患儿生长发育如同龄儿,定期随访中。通过文献复习,共收集符合条件的中国儿童病例31例。婴幼儿期起病占83.9%(26/31),起病急,进展快;主要为上呼吸道感染、发热后起病,严重者早期可出现肝性脑病,可合并有低血糖症、低蛋白血症、凝血障碍、T细胞免疫紊乱;最终通过全外显子二代测序确诊;治疗方案以对症治疗为主;疾病早期积极退热、护肝降酶,一般预后良好。结论NBAS双等位基因突变有明确致病性,急性肝衰竭为重要临床特征。对于反复出现发热后肝衰竭的婴儿,应考虑进行遗传检测。展开更多
基金Supported by the National Natural Science Foundation of China,No. 30371583
文摘AIM: In order to obtain lymphogenous metastasisassociated genes, we compared the transcriptional profiles of mouse hepatocarcinoma cell lines Hca-F with highly lymphatic metastasis potential and Hca-P with low lymphatic metastasis potential.METHODS: Total RNA was isolated from Hca-F and Hca-P cells and synthesized into double-stranded cDNA. In vitro transcription double-stranded cDNA was labeled with biotin (i.e. biotin-labeled cRNA, used as the probe). The cRNA probes hybridized with Affymetrix GeneChip() MOE430A (containing 22 690 transcripts, including 14 500 known mouse genes and 4 371 ESTs) respectively and the signals were scanned by the GeneArray Scanner. The results were then analyzed by bioinformatics.RESULTS: Out of the 14 500 known genes investigated,110 (0.8%) were up regulated at least 23 fold. Among the total 4 371 ESTs, 17 ESTs (0.4%) (data were not presented) were up regulated at least 23 fold. According to the Gene Ontology and TreeView analysis, the 110genes were further classified into two groups: differential biological process profile and molecular function profile.CONCLUSION: Using high-throughput gene chip method,a large number of genes and their cellular functions about angiogenesis, cell adhesion, signal transduction, cell motility, transport, microtubule-based process, cytoskeleton organization and biogenesis, cell cycle, transcription,chaperone activity, motor activity, protein kinase activity,receptor binding and protein binding might be involved in the process of lymphatic metastasis and deserve to be used as potential candidates for further investigation.Cyclin D1, Fosl1, Hsp47, EGFR and AR, and Cav-1 are selected as the possible candidate genes of the metastatic phenotype, which need to be validated in later experiments.ESTs (data were not presented) might indicate novel genes associated with lymphatic metastasis. Validating the function of these genes is helpful to identify the key or candidate gene/pathway responsible for lymphatic metastasis, which might be used as the diagnostic
基金Supported by the National Natural Science Foundation of China (Grant Nos. 30670287, 30471345 and 30200029)the Chinese Academy of Sciences (Grant No. KSCX2-SW-125)
文摘We recovered the phylogenetic relationships among 23 species and subspecies of the highly special-ized grade schizothoracine fishes distributing at 36 geographical sites in the Tibetan Plateau and its surrounding regions by analyzing sequences of cytochrome b genes. Furthermore, we estimated the possible divergent times among lineages based on a historical geological isolation event in the Tibetan Plateau. The molecular data revealed that the highly specialized grade schizothoracine fishes were not a monophyletic group, but were the same as genera Gymnocypris and Schizogypsis. Our results indi-cated that the molecular phylogenetic relationships apparently reflected their geographical and historical associations with drainages, namely species from the same and adjacent drainages clustered together and had close relationships. The divergence times of different lineages were well consistent with the rapid uplift phases of the Tibetan Plateau in the late Cenozoic, suggesting that the origin and evolution of schizothoracine fishes were strongly influenced by environment changes resulting from the upheaval of the Tibetan Plateau.
文摘目的通过临床病例及文献复习,了解神经母细胞瘤扩增序列(NBAS)基因突变相关的儿童急性肝衰竭临床特征,探讨该病的治疗措施和预后情况。方法对1例NBAS基因突变致儿童复发性肝衰竭的临床病例进行整理报道;以“急性肝衰竭”“NBAS”“婴儿肝衰竭综合征2型”为关键词,对中国期刊全文数据库、万方数据知识服务平台进行检索,以“acute liver failure”“NBAS”为关键词,对Web of Science数据库、PubMed进行检索,对数据库建库至2023年1月收录的文献进行复习,总结该病发病机制、临床特征、治疗及预后。结果患儿,男,8月龄至1岁4月龄间发生急性肝衰竭3次,病初有呼吸道感染病史,后出现发热、呕吐、精神萎靡,入院辅助检查提示谷丙转氨酶、谷草转氨酶异常升高,凝血功能障碍。高通量测序发现患儿存在NBAS基因c.1857G>T(p.G619G)/c.3596G>A(p.C1199Y)复合杂合变异。入院后予低脂低蛋白饮食、保肝降酶、白蛋白补充、人纤维蛋白原及凝血酶原复合物补充、维生素K1补充、抗感染等治疗,好转出院。现患儿生长发育如同龄儿,定期随访中。通过文献复习,共收集符合条件的中国儿童病例31例。婴幼儿期起病占83.9%(26/31),起病急,进展快;主要为上呼吸道感染、发热后起病,严重者早期可出现肝性脑病,可合并有低血糖症、低蛋白血症、凝血障碍、T细胞免疫紊乱;最终通过全外显子二代测序确诊;治疗方案以对症治疗为主;疾病早期积极退热、护肝降酶,一般预后良好。结论NBAS双等位基因突变有明确致病性,急性肝衰竭为重要临床特征。对于反复出现发热后肝衰竭的婴儿,应考虑进行遗传检测。
