水稻品种抗褐稻虱的遗传机制及表型稳定性的研究

本文研究了15个水稻品种的抗性遗传，品种国眉占的抗性受一对隐性基因控制，BG367－4受两对隐性基因控制；三桂占1、Suweon294、KAU1727、IR13539－100－2－2－2－3、IR749－5－2－1－1以及IR13240－108－2－2－3均受一对显性基因控制；IR25586－108－1－2－2－2受两对显性基因控制；三黄占2、三叶占1、铁六选；新惠占1、GENG77－4以及IR13427－40－2－3－3都受一对显性基因和一对隐性基因因控制，同时对12个具有不同抗性水平的水稻品种苗期的抗菌表现进行了遗传型稳定性分析。结果表明，不同品种的抗性稳定性有明显差异，TN1是极稳定的高感品种TG367－4、25586-108－1－2－2－2以及Mudgo是非常稳定的高抗;一叶占1、三桂占1和铁六这三个抗级品种的抗虫也较稳定;；而抗级品种国眉占、三黄占2、Suweon294和抗品种包选2、辐包矫21的抗虫性不稳定。     

利用CRISPR/Cas9技术构建斑马鱼sf3a1基因敲除突变体

目的 剪接因子SF3A (splicing factor 3a) 的三个亚基(SF3A1、SF3A2、SF3A3)对U2 snRNP的功能发挥和前剪接小体(prespliceosome)的组装至关重要。SF3A1突变会导致骨髓增生异常综合征(MDS)、慢性粒细胞白血病(CMML)和急性粒细胞白血病(AML)等血液系统疾病。为了研究SF3A1/Sf3a1在生物体中的详细生理功能及其调控机制,本文构建了斑马鱼sf3a1基因敲除突变体。方法 利用CRISPR/ Cas9技术构建斑马鱼sf3a1突变体,通过T7酶切及基因组测序筛选得到F0代及能够稳定遗传的F1代突变体,F1代自交后得到F2代,观察sf3a1纯合缺失对斑马鱼生长发育的影响。结果 基因型鉴定结果显示,本研究得到了2种不同类型的突变品系,分别为-7 bp和-2+13 bp。杂合sf3a1突变体正常存活且可育,而合子型纯合突变体斑马鱼胚胎发育出现明显异常,24 hpf时期胚胎细胞出现大量凋亡,胚胎发育迟缓,并于72 hpf之前死亡。结论 研究利用CRISPR/Cas9技术成功构建了斑马鱼sf3a1基因敲除突变体,为探索sf3a1对斑马鱼生长发育的影响提供了实验材料和依据。     

1 例 KCNH2 基因突变致长 QT 综合征病例分析

目的:探讨长 QT 综合征的致病基因及其基因突变与临床表型的相关性。 方法:回顾分析 1 例可疑长 QT 综合征患儿的 临床资料,并利用全外显子测序(WES)筛查可能导致长 QT 综合征的突变。 利用致病性评分、遗传模式及 Sanger 测序验证突 变。 结果:基因检测结果提示患儿存在 KCNH2 基因 c. 3100_3109delGACACGGAGC 杂合突变,各类预测软件提示该突变是有害 突变。 Alphafold 分析提示该突变会导致蛋白质截短。 结论:KCNH2 基因 c. 3100_3109delGACACGGAGC 杂合突变是本例患儿的 致病突变,并且该突变可能影响了 KCNH2 蛋白的稳定性。     

利用钴-60间歇辐照法进行青霉素G、新霉素、新生霉素及双氢链霉素灭菌

作者采用钴—60辐照对抗生素灭菌进行了研究。本文报道了钴—60辐照灭菌的实验方法、微生物对钴—60辐照的耐受力以及抗生素对钴—60辐照的稳定性等。实验方法:钴—60辐射源由安装在金属板上含有钴—60丸的数个棒条体组成。一些样品放在靠近钴—60辐射源的两排载体上。另一     

遗传学知识在发展肠道菌苗中的应用

肠道病原菌的遗传学分析微生物遗传学的兴趣现在集中在对特异性毒力的鉴定上,即通过检测缺少一个或多个造成致病性的基因的突变体的方法来作出鉴别,然后根据遗传杂交试验来定出这些决定子的性质。从60年代初期起,最先在大肠杆菌K-12进行的遗传学技术曾经在肠道病     

中国人群中CYP2C19活性的个体和种族差异(英文)

本文综述了我国,其中主要在我们实验室,近年来对CYP2C19的研究结果,包括中国人群中多个民族之间CYP2C19的遗传多态性分布及活性比较;中国多个民族中CYP2C19遗传多态性的分子机制;一些非遗传因素对CYP2C19活性的影响;以及CYP2C19在一些重要药物代谢中的作用。     

UGT2B17拷贝数变异的研究进展

尿苷二磷酸葡萄糖醛酸基转移酶（UDP-g1ucuronosyltransferase,UGT）是人体内重要的Ⅱ相代谢酶,UDP-尿苷二磷酸葡萄糖醛酸为其主要的糖基供体。UGT为多基因编码并且含有大量同工酶的超基因家族,包括UGT1和UGT2两个亚家族。UGT2B17是UGT2B家族的一员,越来越多的研究发现UGT2B17基因存在普遍遗传缺失现象,其造成的遗传差异对疾病的影响已引起了众多关注。UGT2B17基因拷贝数变异（Copy Number Variants,CNV）源自4号染色体上一段约120 kb的DNA序列缺失和插入,CNV发生频率高,种族差异明显,与器官移植、骨质疏松、肿瘤发生,乃至兴奋剂检测密切相关。UGT2B17的CNV研究及功能意义具有重大遗传药理学及药物基因组学意义。我们将从UGT2B17的基因拷贝数变异与种族差异、移植排斥反应与肿瘤发生发展等几个方面进行探讨。     

2型糖尿病候选基因的研究进展

2型糖尿病是一种多基因遗传性疾病,每一种基因变异都对疾病有温和的致病风险,并增加个体对2型糖尿病的遗传易感性.对2型糖尿病遗传发病机制的研究一直是内分泌领域的研究热点之一,迄今已发现了200多种与2型糖尿病发生有关的候选基因.本文就2型糖尿病的7个热点候选基因的研究进展进行综述.     

原发性高血压家系调查和遗传性研究

目的　研究原发性高血压家族性的遗传方式。方法　采用家系分析、Falconer法估算遗传度和Penrose法估计遗传方式 ,对 45个家系 36 7人进行分析研究。结果　原发性高血压具有明显垂直传递现象 ,遗传度为 ( 5 5± 10 ) % ,表现为多基因遗传 ,遗传观察值为 2 .87,与多基因理论值 2 .88基本相符。结论　认为原发性高血压为多基因遗传疾病 ,遗传因素作为易感内因在高血压的发生发展过程中起着极其重要的作用。对有遗传易感性人群应重点管理 ,加强防治     

Penta D、Penta E基因座与军人被动攻击行为关联的病例对照研究

目的探讨军人被动攻击行为与Penta D、Penta E基因座的关联情况。方法采用PCR结合毛细管电泳的方法对178例男性军人被动攻击行为者（研究组）和459例健康男性（对照组）的外周静脉血样进行Penta D、Penta E基因座的基因型分析,观察两组在Penta D、Penta E基因座的等位基因及基因型分布差异。结果 Penta D、Penta E基因座均符合遗传平衡定律（Hardy-Weinberg定律）;Penta E基因座等位基因及基因型频率在两个群体中分布差异有统计学意义（P〈0.05）;在两个群体中Penta E基因座的基因型16-18的频率分布差异有统计学意义（P〈0.01,OR：6.564,95%CI：2.278～18.914）;PentaD基因座等位基因频率及基因型频率在两个群体中分布无显著差异（P〉0.05）。结论 Penta E基因座多态性与军人被动攻击行为的发生存在关联,Penta E基因座基因型16-18为军人被动攻击行为的遗传易感因素。     

Efficacy of gut lavage,hemodialysis, and hemoperfusion in the therapy of paraquat or diquat intoxication

Clinical and in vitro investigations were carried out to test the efficacy of gut lavage, hemodialysis, and hemoperfusion in the treatment of poisoning with paraquat or diquat. In a patient suffering from diquat intoxication 130 times more diquat was removed by gut lavage 30 h after ingestion than was removed by complete aspiration of the gastric contents.Determination of in vitro clearances for paraquat and diquat by hemodialysis showed that, at serum concentrations of 1–2 ppm, such as are frequently encountered in poisoning in man, toxicologically relevant quantities of herbicide cannot be removed from the body. At a concentration of 20 ppm, on the other hand, hemodialysis proved to be effective, the clearance being 70 ml/min at a blood flow rate of 100 ml/min. The efficacy of hemoperfusion with coated activated charcoal was on the whole better. Especially at concentrations around 1–2 ppm, the clearance values for hemoperfusion were some 5–7 times higher than those for hemodialysis.In a patient suffering from paraquat poisoning, both hemodialysis as well as hemoperfusion were carried out. The in vitro results could be confirmed: At serum concentrations of paraquat less than 1 ppm no clearance could be obtained by hemodialysis while by hemoperfusion with activated charcoal quite high clearance values were measured and the serum level dropped down to zero.

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Zusammenfassung Klinische Untersuchungen und Laboratoriumsversuche wurden durchgeführt, um die Wirksamkeit von Darmspülung, Hämodialyse und Hämoperfusion bei Paraquat- und Deiquat-Vergiftungen zu prüfen.Bei einem Patienten wurde 30 Std nach Deiquat-Aufnahme durch Darmspülung 130mal mehr Deiquat entfernt als durch vollständige Aspiration des Mageninhaltes. In vitro-Versuche ergaben, daß bei Blutserumkonzentrationen von 1–2 ppm, die bei Vergiftungen oft gemessen werden, durch Hämodialyse keine toxikologisch relevanten Paraquat- oder Deiquat-Mengen entfernt werden können. Dagegen erwies sich die Hämodialyse bei 20 ppm und einer Blutumlaufgeschwindigkeit von 100 ml/min mit einer Clearance von 70 ml/min als wirksam. Die Hämoperfusion mit beschicheter Aktivkohle war in diesen Versuchen aber eindeutig überlegen, denn insbesondere bei Konzentrationen um 1–2 ppm waren die Clearance-Werte 5–7mal höher als bei der Hämodialyse.Die in vitro-Ergebnisse wurden bei einem Patienten mit einer Paraquat-Vergiftung bestätigt: Bei Konzentrationen unter 1 ppm war die Hämodialyse wirkungslos, während durch Hämoperfusion relativ hohe Clearance-Werte erreicht wurden, so daß der Serumspiegel rasch unter die Nachweisgrenze abfiel.

     

In vitro studies on sterically stabilized liposomes (SL) as enzyme carriers in organophosphorus (OP) antagonism

This study describes a new approach for organophosphorous (OP) antidotal treatment by encapsulating an OP hydrolyzing enzyme, OPA anhydrolase (OPAA), within sterically stabilized liposomes. The recombinant OPAA enzyme was derived from Alteromonas strain JD6. It has broad substrate specificity to a wide range of OP compounds: DFP and the nerve agents, soman and sarin. Liposomes encapsulating OPAA (SL)* were made by mechanical dispersion method. Hydrolysis of DFP by (SL)* was measured by following an increase of fluoride ion concentration using a fluoride ion selective electrode. OPAA entrapped in the carrier liposomes rapidly hydrolyze DFP, with the rate of DFP hydrolysis directly proportional to the amount of (SL)* added to the solution. Liposomal carriers containing no enzyme did not hydrolyze DFP. The reaction was linear and the rate of hydrolysis was first order in the substrate. This enzyme carrier system serves as a biodegradable protective environment for the recombinant OP-metabolizing enzyme, OPAA, resulting in prolongation of enzymatic concentration in the body. These studies suggest that the protection of OP intoxication can be strikingly enhanced by adding OPAA encapsulated within (SL)* to pralidoxime and atropine.     

Aquatic Insects and Trace Metals: Bioavailability,Bioaccumulation, and Toxicity

Abstract

The uptake of metals from food and water sources by insects is thought to be additive. For a given metal, the proportions taken up from water and food will depend both on the bioavailable concentration of the metal associated with each source and the mechanism and rate by which the metal enters the insect. Attempts to correlate insect trace metal concentrations with the trophic level of insects should be made with a knowledge of the feeding relationships of the individual taxa concerned. Pathways for the uptake of essential metals, such as copper and zinc, exist at the cellular level, and other nonessential metals, such as cadmium, also appear to enter via these routes. Within cells, trace metals can be bound to proteins or stored in granules. The internal distribution of metals among body tissues is very heterogeneous, and distribution patterns tend to be both metal and taxon specific. Trace metals associated with insects can be both bound on the surface of their chitinous exoskeleton and incorporated into body tissues. The quantities of trace meals accumulated by an individual reflect the net balance between the rate of metal influx from both dissolved and particulate sources and the rate of metal efflux from the organism. The toxicity of metals has been demonstrated at all levels of biological organization: cell, tissue, individual, population, and community. Much of the literature pertaining to the toxic effects of metals on aquatic insects is based on laboratory observations and, as such, it is difficult to extrapolate the data to insects in nature. The few experimental studies in nature suggest that trace metal contaminants can affect both the distribution and the abundance of aquatic insects. Insects have a largely unexploited potential as biomonitors of metal contamination in nature. A better understanding of the physico-chemical and biological mechanisms mediating trace metal bioavailability and exchange will facilitate the development of general predictive models relating trace metal concentrations in insects to those in their environment. Such models will facilitate the use of insects as contaminant biomonitors.     

Alzheimer’s disease – current trends in basic and clinical research. Highlights from the 16th ECNP

Advances in the molecular biological knowledge of neuronal nicotinic acetylcholine receptors (nAChRs) have led to a growing interest by the pharmaceutical industry in the development of novel compounds that selectively modulate nAChR function. The ability of (-)-nicotine, an activator of nAChRs, to enhance attentional aspects of cognition in animals and humans, to exert neuroprotective and anxiolytic-like effects, and presumably to mediate the negative correlation between smoking and Alzheimer's (and Parkinson's) Disease, has focused interest on the potential therapeutic utility of modulators of nAChR function for treatment of some of the deficits associated with these progressive, neurodegenerative conditions. Numerous compounds are known which activate nAChRs and which might serve as lead compounds toward the development of such agents. The pharmacologic diversity of neuronal nAChR subtypes suggests the possibility of developing selective compounds which would have more favourable side-effect profiles than existing agents. This broader class of agents, collectively called cholinergic channel modulators (ChCMs), is anticipated to encompass compounds which would have more favourable side-effect profiles than existing agents, which generally exhibit low selectivity. This selectivity may be achieved by preferentially activating some subtypes of nAChRs (i.e., Cholinergic Channel Activators, ChCAs) or inhibiting the function of other subtypes (Cholinergic Channel Inhibitors, ChCIs). An overview of the biology of nAChRs and the rationale for the use of ChCMs for the treatment of dementia related to neurodegenerative diseases are presented, followed by a discussion of lead compounds and compounds under consideration for clinical evaluation.     

Steroidal sapogenin contents in some domestic plants

In order to find out the values of the steroid resources for the future use. the compositions and contents of steroidal sapogenins from 13 domestic plants have been investigated. As a result,Dioscorea nipponica, D. quinqueloba andSmilax china were found to have large amount of diosgenin. And pennogenin inTrillium kamtschaticum andParis verticillata, yuccagenin inAllium fistulosum, hecogenin inAgave americana and neochlorogenin inSolanum nigum were appeared to be major steroidal sapogenins.