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关键词： 腭心面综合征   临床特征   遗传学特征  

摘要： 腭心面综合征(VCFS)是在人类中发现的最常见的多发性异常综合征之一,主要与22号染色体长臂11区2带的染色体微缺失有关。患者存在腭部、心脏、颅面、免疫等多方面的复杂发育畸形。本文就近年来VCFS的临床表现和遗传特征的研究进展作一综述。

关键词： Jumonji结构域的蛋白   表观遗传学   组蛋白去甲基化   生物学功能  

摘要： Jumonji结构域的蛋白(JMJD)对组蛋白的修饰作用是表观遗传学的主要调控机制之一。细胞的组蛋白在JMJD1A的作用下脱去甲基,呈现出低甲基化,促进了细胞基因的表达;高甲基化的细胞则与之相反,细胞基因的表达受到抑制。JMJD1A具有广泛的生物学功能,在维持胚胎干细胞及早期胚胎的生物活性、细胞分化、缺氧调控、精子的发生与成熟、癌细胞的分裂增殖、性别调控、同型二聚体形成、相关过氧化物酶体及热生成的调控等方面发挥重要作用。JMJD1A是一种基因表达调节因子,通过催化组蛋白H3赖氨酸9的特定位点使其去甲基化,继而引发细胞中基因表达发生表观遗传学改变。

关键词： 多发性骨髓瘤   硼替佐米   细胞遗传学  

摘要： 目的从细胞遗传学角度探讨硼替佐米对多发性骨髓瘤(MM)疗效的影响因素。方法回顾我科2017年1月至2020年6月110例新诊断的多发性骨髓瘤(NDMM)患者,进行骨髓穿刺留取3 ml骨髓液,其中85例进行FISH检测,通过CD38磁珠分选骨髓中浆细胞,应用FISH探针检测1q21、t(4;14)、t(14;16)、t(14;20)、17p-细胞遗传学改变,并探讨上述遗传学异常对硼替佐米疗效的影响。结果85例FISH检测患者中,8例因放弃治疗、失访等原因无法进行疗效评估,最终选取77例可评估疗效的病例进行分析。77例NDMM患者FISH阳性率为62.3%,高危细胞遗传学[17p-、t(4;14)、t(14;16)、t(14;20)]异常的阳性率为62.3%。0 FISH组、1 FISH组、2 FISH组的CR率分别为17.2%、14.7%、28.7%,CR+VGPR分别为55.1%、70.6%、78.7%;单纯1q21阳性和阴性组,两组CR率分别为20%、17.2%,CR+VGPR分别为64%、55.1%;t(4;14)阳性组与阴性组,CR率分别为33.3%、17.2%,VGPR率分别为66.7%、37.9%;17p-阳性组与阴性组,CR率分别为10%、17.2%,VGPR率分别为60%、37.9%。结论细胞遗传学的改变不影响硼替佐米的缓解率。

关键词： 纳米颗粒   近红外光   遗传工程   心脏  

摘要： 目的探讨上转换纳米颗粒(upconversion nanoparticles,UCNPs)结合980 nm近红外光(near infrared,NIR)能否通过激发可见光激活光敏蛋白(channelrhodopsin-2,ChR2)成功夺获心肌。方法15只SD幼鼠按随机数字表法随机分为光敏蛋白(ChR2)组(5例)、红色荧光蛋白(mCherry)组(5例)和对照组(5例),分别经颈静脉注入带有相应基因的腺相关病毒(adeno-associated virus,AAV)载体AAV9-CAG-hChR2(H134R)-mCherry、AAV9-CAG-mCherry和磷酸盐缓冲盐溶液(PBS),8周后开胸暴露心脏实施在体实验。自制包含UCNPs的聚二甲基硅氧烷(polydimethylsiloxane,PDMS)透光薄膜,将薄膜贴附于右心室游离壁,980 nm NIR经程序设置脉冲参数,由400μm芯径光纤输出,至于薄膜上方,同步记录NIR输出信号及体表心电图,观察NIR夺获右心室心肌的情况。结果ChR2组大鼠心肌可被NIR激发转换出的可见光(包含波长450 nm和475 nm的蓝光)夺获,并且随着NIR输出功率的增加1~6 W,心肌夺获率可增加至100%,随着NIR脉冲宽度的增加(5、10、20、50 ms),夺获心脏的NIR输出功率逐渐减小。而mCherry组和对照组大鼠心脏对980 nm NIR经UCNPs薄膜上转换的可见光无上述反应。结论UCNPs结合980 nm NIR用于光遗传学技术可成功夺获心肌,利用NIR的组织穿透性优势,有可能为心脏光遗传学研究提供新的实施策略。

关键词： 子宫肉瘤   平滑肌肉瘤   间叶源性肿瘤   子宫肿瘤   平滑肌瘤   分子遗传学   临床病理学   靶向治疗  

摘要： 二代测序等分子生物学技术的应用使得人们对子宫间叶源性肿瘤有了新的认识。本文将介绍延胡索酸水合酶-缺陷型平滑肌瘤、PGR重排上皮样平滑肌肉瘤、PLAG1重排黏液样平滑肌肉瘤、SMARCA4缺失未分化子宫肉瘤、血管周上皮样细胞肿瘤、类似卵巢性索间质肿瘤的子宫肿瘤、炎性肌纤维母细胞肿瘤、伴NTRK融合或COL1A1-PDGFB融合的子宫肉瘤等新近认识的子宫间叶源性肿瘤,重点讨论其临床病理学及分子遗传学特征。相关分子遗传学改变对肿瘤的精准诊断、预后评估和靶向治疗有重要应用价值。

关键词： 中华医学会系列杂志   快速通道   遗传学   专业的发展   研究成果   稿件  

摘要： 随着我国遗传学及其相关专业的发展,为更好的将国内及国外最新的遗传学及其相关领域的研究成果和进展尽快报道出来。本刊按照中华医学会系列杂志的管理要求,对符合以下要求的稿件开通了“快速通道”,符合要求稿件的作者可以向编辑部提出申请。

摘要： Textbooks are used widely in classrooms all around the world. Some teachers treat their textbooks as the curriculum and plan their entire teaching according to the textbook. Hence, textbooks should meet the teaching needs of the teachers, while at the same time meeting the learning needs of students. This study aims to compare the genetics-related chapters of four selected biology textbooks widely used in Turkish classrooms: two used by the Ministry of Education (MoNE) and two used for the International Baccalaureate Diploma Programme (IBDP). The textbooks were evaluated according to the criteria published by Turkish Board of Education (TTKB). In addition, the online materials provided with the textbooks and introduction of Nature of Science (NoS) in these textbooks were investigated. The analysis was done on genetics-related chapters, using qualitative content analysis for data collection. The findings of the study showed that all four of the textbooks generally complied with the criteria, however there were some discrepancies. There were some scientific mistakes in both IBDP textbooks. Similarly, there were mistakes in the online materials provided by MoNE textbooks. Finally, the introduction of NoS was analyzed using a modified framework. The findings showed that none of the textbooks had balanced representation of NoS. Overall, none of the textbooks fully complied with the criteria. Thus, teachers and students should be mindful of the findings of this study when using these textbooks for their teaching and learning.

关键词： CN-AML   miR-195   Prognosis   Next generation sequencing   Chemotherapy  

摘要： Background Acute myeloid leukemia (AML) is a heterogeneous blood disease with poor treatment effect and high recurrence rate. With the deepening of non-coding RNA research, more and more miRNAs have been found to participate in various physiological processes of tumors. In this study, we tried to find the miRNA related to the prognosis of AML. Methods Collect gene expression data and clinical information of AML patients in the Cancer Genome Atlas database for statistical analysis. The expression level of miR-195 of each patient was standardized by logCPM and then produced as a box plot according to subtype classification. TargetScan was used to predict the target genes of miR-195, and these genes were subjected to GO pathway enrichment analysis by Metascape. Differential miRNAs were screened through the DESeq2 package in the R language. Survival rates were estimated using the Kaplan-Meier method and the log-rank test. The multivariate Cox proportional hazard models of EFS and OS were established. Results We found that the expression of miR-195 was the lowest in cytogenetically normal (CN-) AML, and high expression of miR-195 only promoted the prognosis of chemotherapy-only CN-AML patients (EFS: P = 0.016;OS: P = 0.035). Multivariate analysis showed that miR-195(high) was a favorable and independent factor for CN-AML (both P < 0.05). Further analysis showed that miR-195 may affect signal transduction through ANHAK2 in AML. Conclusion We found that high expression of miR-195 can increase prognosis time of chemotherapy-only CN-AML patients, providing a new possibility for treatment.

摘要： The purpose of this hermeneutic phenomenological study was to understand the lived experiences of Air Force intelligence professionals who decide to pursue a college degree. The study focused on the experiences of 10 current Air Force intelligence professionals who have completed an intelligence studies (or related) program and are currently serving in an intelligence operations group. The philosophical foundation used in this study was Heidegger's hermeneutic phenomenology, and the secondary theoretical framework that was applied was the expectancy-value theory, which provides the underlying constructs and propositions for how Air Force intelligence professionals make sense of their careers. Lived experiences of Air Force intelligence professionals were collected through interviews, document analysis, and focus groups. Explication was centered on generating interviews, synthesizing situated narratives into general narratives, and generating general descriptions that produced thematic analysis appropriate to hermeneutic phenomenology. This study focused on the gap regarding the unknown lived experiences of Air Force intelligence professionals' pursuit of higher education. Through the collection of data, the themes that were identified from the collection of interviews were Convenience and Transferability, Marketability, and Outlier Data and Findings.