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关键词： 动物遗传学   生物统计学   实验教学   教学改革  

摘要： 动物遗传学实验课是加强学生理解遗传学基本理论和掌握实验技术的主要途径,是提高动物遗传学教学效果的重要环节。课程组对动物遗传学实验课内容进行优化,在实验项目中注重生物试验设计思想,让学生参与实验设计,旨在提高学生参与实验课的主观能动性,增加参与实验课的积极性,提高他们分析问题和解决问题的能力。

关键词： 多发性骨髓瘤   氟脱氧葡萄糖F18   正电子发射断层显像术   体层摄影术,X线计算机   细胞遗传学   预后  

摘要： 目的探讨初诊多发性骨髓瘤(MM)患者的^(18)F-氟脱氧葡萄糖(FDG)PET/CT影像学表现与高危细胞遗传学异常(HRCA)的相关性及二者联合应用于MM患者预后评估中的价值。方法回顾性分析2016年6月至2020年11月于汕头市中心医院经骨髓组织病理学检查和实验室检查确诊为MM并于治疗前行^(18)F-FDG PET/CT显像的44例患者的临床资料和影像学资料,其中男性23例、女性21例,年龄38~91(61.1±9.6)岁。根据荧光原位杂交检测结果将患者分为有HRCA组和无HRCA组;根据国际骨髓瘤工作组发布的修订版国际分期系统(R-ISS)分期标准将患者分为Ⅰ期+Ⅱ期和Ⅲ期2组;根据Mayo骨髓瘤分层级风险调整治疗(mSMART)3.0危险度分层标准将患者分为标危组和高危组。分析所有患者的^(18)F-FDG PET/CT显像资料,根据局灶病变(FLs)个数≤3或>3、最大标准化摄取值(SUVmax)≤4.2或>4.2和有无髓外病变(EMD)分别将患者各分为2组。随访结束后统计患者的无进展生存(PFS)期和总生存(OS)期。采用χ^(2)检验比较MM患者的^(18)F-FDG PET/CT影像学表现与临床特征、HRCA和分期的差异;采用多因素Logistic回归分析MM患者HRCA、R-ISS分期和mSMART 3.0分期的独立危险因素;采用Kaplan-Merier和Log-rank检验比较组间PFS期和OS期的差异;采用Cox比例风险回归模型分析MM患者PFS期和OS期的独立预后不良因素。结果FLs个数≤3或>3在不同R-ISS分期、不同mSMART 3.0分期和有无HRCA组间的差异均有统计学意义(χ^(2)=4.919、8.472、8.167,均P<0.05);有无EMD在不同mSMART 3.0分期和有无HRCA组间的差异均有统计学意义(χ^(2)=4.061、6.808,均P<0.05)。FLs个数>3是HRCA、R-ISS分期和mSMART 3.0分期的独立危险因素(OR=10.952、5.000、10.714,95%CI:1.195~100.393、1.127~22.181、2.269~50.598,均P<0.05)。有无EMD和有无HRCA组间PFS期和OS期的差异均有统计学意义(PFS期:χ^(2)=8.572、9.023,均P<0.01;OS期:χ^(2)=6.030、4.877,均P<0.05)。EMD是PFS期和OS期的独立预后不良因素(OR=4.466、6.520,95%CI:1.084~18.396、1.174~36.211,均P<0.05);HRCA是PFS期的独立预后不良因素(OR=8.458,95%CI:1.671~42.812,P<0.05)。截至随访结束,无EMD且无HRCA或仅存在两者之一的患者,均未达到中位PFS期和中位OS期;同时存在EMD和HRCA的患者中位PFS期为11个月(χ^(2)=20.903,P<0.001),中位OS期为17个月(χ^(2)=10.656,P<0.01)。结论初诊MM的患者的^(18)F-FDG PET/CT影像学表现与HRCA存在相关性,二者联合应用对MM患者的预后评估有一定的预测价值。

关键词： 产前超声   超声影像学   遗传学分析   撤稿   胎儿  

摘要： 《中华超声影像学杂志》编辑部:我们在《中华超声影像学杂志》2021年第30卷第10期发表的“Iq23.3-q31.2缺失胎儿的产前超声表现及遗传学分析1例”[1]-文中与我们之前发表在Frontiers in Genetics,2021 Sep 23,12:696624(doi:10.3389/fgene.2021.696624)的文章存在一些内容与图片重复,涉及到版权,特申请从《中华超声影像学杂志》撤稿,并就由此带来的不便向编辑部致歉。

关键词： 肺疾病,慢性阻塞性   气道黏液高分泌   黏蛋白   表观遗传学  

摘要： 慢性阻塞性肺疾病是影响人类健康的重要疾病,气道黏液高分泌是慢性阻塞性肺疾病病理生理特征之一,影响着患者整体健康状况的评估,但具体分子机制仍不明确。近年来,大量研究发现表观遗传学通过多种机制改变基因表达,造成细胞功能异常,最终导致气道黏液分泌异常。本文就DNA甲基化、组蛋白修饰和非编码核糖核酸调节气道黏蛋白表达的研究进展作一综述。

关键词： 胚胎   遗传学检测   伦理争议  

摘要： 就目前胚胎植入前遗传学检测(preimplantation genetic testing,PGT)技术实施过程的各个环节中可能存在的伦理争议、伦理风险以及现状进行描述,结合不断发展的遗传学检测技术分环节剖析PGT过程中需要面临的各种伦理争议,并就PGT技术相关伦理争议内容及现有的应对方案及行业共识进行探讨,旨在不断促进PGT技术实施过程中相关伦理争议共识和指南的形成和完善,推动PGT技术在遗传病阻断和出生缺陷防控体系建设中安全规范实施。

摘要： Ethanol naturally occurs in fermenting fruits and nectars consumed by mammals. To avoid harmful side effects of ethanol consumption, natural selection might have favoured the persistence and spread of genetic variants that improve ethanol metabolism in frugivorous and nectarivorous mammals. Variation in humans and other primates has fueled debate over adaptive hypotheses, which will be informed by a better understanding of comparative variation across mammals. Ethanol is primarily metabolized via enzymes encoded by ADH and ALDH genes. I studied these genes along with the CAT gene across a range of mammals with diverse diets. I used bioinformatics tools to look for evidence of positive selection in species with high dietary ethanol exposure due to reliance on fruits and/or nectars, relaxed selection in species with low dietary ethanol exposure, and convergent evolution among diverse frugivorous and/or nectarivorous species. Among genes of interest, the ADH7 gene is critical for ethanol metabolism in humans. I additionally investigated amino acid variation at a site (294) within the ADH class IV enzyme (encoded by ADH7) that is important for enzymatic function. I found no evidence of positive selection or of excess non-random convergent substitutions across ADH, ALDH, and CAT genes. However, I did find evidence that several ALDH genes and the CAT gene are under intensified or relaxed selection in lineages with low dietary ethanol exposure. Finally, I found that several leaf-nosed bats, a flying fox, and several opossums vary with the amino acid they possess at site 294. I also identified premature stop codons along ADH7 in two leaf-nosed bats, a rodent, a shrew, two sloths, and two opossums. Intensified selection on the ALDH genes and CAT gene suggest these genes are involved in important bodily processes that have led to their maintenance. Variation at the critical site of ADH7 in bats may indicate increased efficiency for ethanol metabolism in these species. My find

ISBN: (数字)9781119652038 ISBN: (纸本)9781119651987

摘要： Explore the past, present, and future of cancer cytogenetics In Abnormal Chromosomes: The Past, Present, and Future of Cancer Cytogenetics , globally renowned researchers Drs. Sverre Heim and Felix Mitelman deliver a state-of-the-art review of how cancer cytogenetic analyses have contributed to an improved understanding of tumorigenesis as well as to the diagnosis and treatment of cancer patients. The book also discusses how cytogenetics – the study of chromosomes - meets, interacts with, and cross-fertilizes other investigative technologies, including molecular somatic cell genetics. The book provides an impetus to think more deeply about the role chromosomes, and their abnormalities, play in health and disease, especially in neoplastic disorders. From which origins did cytogenetics develop? How did the finding of acquired chromosomal abnormalities in cells of leukemias and solid tumors influence our understanding of cancer as a biological process? How was information of this nature put to good use in the clinical management of cancer patients? Abnormal Chromosomes: The Past, Present, and Future of Cancer Cytogenetics offers readers: A thorough introduction to ancient theories of disease, the advent of cellular pathology, and how a scientific interest in chromosomes developed Comprehensive exploration of the conceptual importance of Theodor Boveri and his somatic mutation theory of cancer A detailed chronological resume of cancer cytogenetic discoveries during the 20th century In-depth discussions of the role of chromosome abnormalities, oncogenes, and tumor suppressor genes in leukemias, lymphomas, and solid tumors, together with a survey of what chromosome analyses have revealed about the clonal evolution of neoplastic cell populations A discussion of the importance of pathogenetic classifications of neoplastic diseases, the role chromosome abnormalities play in this context, and which technological breakthroughs can be expected in chromosome-oriented cancer rese

关键词： 研究生   高级分子遗传学   双语教学  

摘要： 研究生专业课程开展双语教学对于提升学生的专业文献阅读和写作能力、拓展国际视野、培养科研思维能力,以及提升高校的国际化水平、国际竞争能力具有积极意义.高级分子遗传学是生物学专业研究生的重要基础课,通过双语课程的开展,将为研究生日后从事科研相关工作以及博士阶段深造打下良好的基础,有助于提高研究生综合能力素质.本文就开展研究生专业课《高级分子遗传学》双语课程教学的措施和一些心得体会进行总结.

关键词： 中文期刊   医学遗传学   英文摘要   偏态分布   定量资料   英文期刊   标准差   统计学符号  

摘要： 定量资料呈偏态分布时用M(Q1,Q3)或M(IQR)表示,其中M、Q为斜体,数字为下标正体。中文期刊的均数±标准差用w^(-)±s表示,英文期刊或中文期刊英文摘要的均数±标准差可用Mean±SD表示。