Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes

Juvenile polyposis syndrome (JPS) is an inherited hamartomatous-polyposis syndrome with a risk for colon cancer. JPS is a clinical diagnosis by exclusion, and, before susceptibility genes were identified, JPS could easily be confused with other inherited hamartoma syndromes, such as Bannayan-Riley-Ruvalcaba syndrome (BRRS) and Cowden syndrome (CS). Germline mutations of MADH4 (SMAD4) have been described in a variable number of probands with JPS. A series of familial and isolated European probands without MADH4 mutations were analyzed for germline mutations in BMPR1A, a member of the transforming growth-factor beta-receptor superfamily, upstream from the SMAD pathway. Overall, 10 (38%) probands were found to have germline BMPR1A mutations, 8 of which resulted in truncated receptors and 2 of which resulted in missense alterations (C124R and C376Y). Almost all available component tumors from mutation-positive cases showed loss of heterozygosity (LOH) in the BMPR1A region, whereas those from mutation-negative cases did not. One proband with CS/CS-like phenotype was also found to have a germline BMPR1A missense mutation (A338D). Thus, germline BMPR1A mutations cause a significant proportion of cases of JPS and might define a small subset of cases of CS/BRRS with specific colonic phenotype.     

Biofabrication with chitosan

The traditional motivation for integrating biological components into microfabricated devices has been to create biosensors that meld the molecular recognition capabilities of biology with the signal processing capabilities of electronic devices. However, a different motivation is emerging; biological components are being explored to radically change how fabrication is achieved at the micro- and nanoscales. Here we review biofabrication, the use of biological materials for fabrication, and focus on three specific biofabrication approaches: directed assembly, where localized external stimuli are employed to guide assembly; enzymatic assembly, where selective biocatalysts are enlisted to build macromolecular structure; and self-assembly, where information internal to the biological material guides its own assembly. Also reviewed are recent results with the aminopolysaccharide chitosan, a material that offers a combination of properties uniquely suited for biofabrication. In particular, chitosan can be directed to assemble in response to locally applied electrical signals, and the chitosan backbone provides sites that can be employed for the assembly of proteins, nucleic acids, and virus particles.     

衣藻质体分裂相关基因CrFtsZ2的克隆及其进化分析

ＦｔｓＺ(ｆｉｌａｍｅｎｔｉｎｇｔｅｍｐｅｒａｔｕｒｅｓｅｎｓｉｔｉｖｅ)是一类从大肠杆菌温度敏感型突变体中分离到的基因 .该基因与Ｅ .ｃｏｌｉ细胞分裂密切相关 .突变体由于细胞分裂受阻而呈现“长丝状”[1] .此类基因于 1980年首次被克隆[2 ] .随后的研究表明 ,ＦｔｓＺ蛋白在Ｅ .ｃｏｌｉ分裂细胞的凹陷处形成环状多聚体 ,Ｚ环 ,是Ｅ .ｃｏｌｉ细胞分裂的限制因子[3 ] .衣藻属于绿藻 ,在现存的所有单细胞真核藻类中 ,绿藻是与陆生植物亲缘关系最近的一支[4] .由于衣藻为单细胞真核生物 ,并且仅含有一个巨大的叶绿体 ,因而是研究…     

不同栽培管理梨园梨小食心虫发生程度研究

梨小食心虫Grapholitha molesta(Busck)是梨园中的一种重要害虫。本论文采用性诱剂诱集法研究了不同栽培管理条件下梨园梨小食心虫发生的情况。结果表明,在5种不同种植模式的果园中,梨小食心虫在单植桃园中发生最重,试验期间梨小食心虫的日平均诱蛾量为10.9头/盆,与其他4种栽植模式果园的诱捕量均呈显著差异,且混有桃树的果园中梨小食心虫的发生数量多,而单植梨园、梨苹果混栽园、单植苹果园的梨小食心虫发生相对较轻。果实套袋的管理方法也可以显著降低梨小食心虫的发生数量,非套袋梨园的日平均诱捕量为13.8头/盆,是套袋梨园的1.52倍。试验还表明,不同品种和不同树龄的梨树对梨小食心虫的抗虫性均存在显著差异。酥梨比巴梨的抗虫性差,试验期间酥梨园的日平均诱捕量为12.6头/盆,是巴梨园的2.21倍,而40年老酥梨园日平均诱蛾量为12.5头/盆,是20年酥梨园诱蛾量的2.5倍。     

Genetic and biochemical analyses of Pfh1 DNA helicase function in fission yeast

The Schizosaccharomyces pombe pfh1⁺ gene (PIF1 homolog) encodes an essential enzyme that has both DNA helicase and ATPase activities and is implicated in lagging strand DNA processing. Mutations in the pfh1⁺ gene suppress a temperature-sensitive allele of cdc24⁺, which encodes a protein that functions with Schizosaccharomyces pombe Dna2 in Okazaki fragment processing. In this study, we describe the enzymatic properties of the Pfh1 helicase and the genetic interactions between pfh1 and cdc24, dna2, cdc27 or pol 3, all of which are involved in the Okazaki fragment metabolism. We show that a full-length Pfh1 fusion protein is active as a monomer. The helicase activity of Pfh1 displaced only short (<30 bp) duplex DNA regions efficiently in a highly distributive manner and was markedly stimulated by the presence of a replication-fork-like structure in the substrate. The temperature-sensitive phenotype of a dna2-C2 or a cdc24-M38 mutant was suppressed by pfh1-R20 (a cold-sensitive mutant allele of pfh1) and overexpression of wild-type pfh1⁺ abolished the ability of the pfh1 mutant alleles to suppress dna2-C2 and cdc24-M38. Purified Pfh1-R20 mutant protein displayed significantly reduced ATPase and helicase activities. These results indicate that the simultaneous loss-of-function mutations of pfh1⁺ and dna2⁺ (or cdc24⁺) are essential to restore the growth defect. Our genetic data indicate that the Pfh1 DNA helicase acts in concert with Cdc24 and Dna2 to process single-stranded DNA flaps generated in vivo by pol δ-mediated lagging strand displacement DNA synthesis.     

α-亚麻酸和γ-亚麻酸对高脂血症人群的降血脂作用

目的:研究α-亚麻酸和γ-亚麻酸对高脂血症人群血脂水平的影响.方法:选取血清总胆固醇≥5.2mmol/L及甘油三酯≥1.65mmol/L的自愿受试者106人,随机分为对照组和试验组,试验采用双盲试验.对照组每天服用含α-亚麻酸400mg,γ-亚麻酸120mg的软胶囊3粒,对照组服用外形相同的安慰剂3粒.实验前后分别观察人血清TG、TC、HDL-C变化及一般状况.试验周期为45天.结果:与对照组比较,试验组血清TC、TG水平显著降低,血清HDL-C水平显著上升;试验组自身比较,试验后血清TC和TG水平显著降低,血清HDL-C水平显著升高;对照组自身比较,试验后血清TC、TG、HDL-C水平差异均无显著变化;试验组TC、TG、HDL-C有效率及总有效率明显高于对照组.在试验期间受试者的精神、睡眠、饮食、在小便、血压、各项临床指标等均未见异常,未见其它不良反应.结论:α-亚麻酸和γ-亚麻酸具有辅助降血脂功能,且对机体健康无不良影响.     

The feasibility of using a two-stage autotrophic nitrogen removal process to treat sewage

The feasibility of using a two-stage autotrophic nitrogen removal process to treat sewage was examined in this study. The obtained results showed that total nitrogen (TN) could be efficiently removed by 88.38% when influent TN and chemical oxygen demand (COD) were 45.87 and 44.40 mg/L, respectively. In the first stage, nitritation was instantly achieved by the bioaugmentation strategy, and can be maintained under limited oxygen condition (below 0.2mg/L). The ratio of nitrite to ammonium in the effluent of the nitritation reactor can be controlled at approximate 1.0 by adjusting aeration rate. In the second stage, anammox was realized in the upflow anaerobic sludge blanket (UASB) reactor, where the total nitrogen removal rate was 0.40 kg Nm(-3)d(-1) under limited-substrate condition. Therefore, the organic matter in sewage can be firstly concentrated in biomass which could generate biogas (energy). Then, nitrogen in sewage could be removed in a two-stage autotrophic nitrogen removal process.     

Antigenic relationships among five reovirus-like (RVL) agents by complement fixation (CF) and development of new substitute CF antigens for the human RVL agent of infantile gastroenteritis.

The human reovirus-like (HRVL) agent, Nebraska calf diarrhea virus (NCDV), epizootic diarrhea of infant mice (EDIM) virus, simian agent (SA)-11, and the "O" (offal) agent were found to be similar, if not identical, in reciprocal complement fixation (CF) tests employing hyperimmune animal sera. In addition, in CF tests with paired sera from 35 diarrhea patients who shed the HRVL agent, 74% developed serologic evidence of infection with the HRVL antigen, 43% with NCDV, 51% with EDIM virus, 57% with SA-11, and 71% with the "O" agent. Thus, in addition to the NCDV, which had previously been described as a suitable substitute CF antigen for the HRVL agent, the SA-11, "O", and EDIM viruses may also be utilized as substitute antigens for the HRVL agent. However, the "O" agent appears to be the most efficient of the four substitute CF antigens and thus should be used preferentially when the HRVL agent is not available. The "O" agent was about as efficient as the HRVL agent and significantly more efficient than the NCDV for detecting seroresponses. The greatest efficiency for detecting infection with the HRVL agent resulted when sera were tested with both the HRVL and "O" agents as 31 (89%) of the patients developed serologic evidence of infection with one or both antigens. The finding of additional substitute CF antigens for the HRVL agent may have implications in the immunoprophylaxis against human disease.     

毕赤酵母发酵生产颗粒性乙肝表面抗原的条件优化

乙型肝炎病毒的流行对人们的生命健康造成了极大的威胁, 而有效准确的诊断和预防性疫苗是阻止其流行的主要手段, 乙肝表面抗原是诊断试剂和疫苗的主要成分。本试验在构建稳定表达HBsAg的毕赤酵母菌株后, 对其发酵条件进行了研究。采用摇瓶分批培养方法, 探讨了不同培养基、溶解氧、诱导物甲醇的浓度以及pH值等因素对菌体生长与重组蛋白表达的影响。在10 L发酵罐上采用分批补料培养的方法研究了进行扩大培养生产重组HBsAg。结果表明, FBS无机盐合成培养基是理想的工业发酵培养基, 溶解氧对菌体的生长与表达有显著的影响, 甲醇诱导最佳终浓度为1% (V/V), 发酵的最适pH值为5.4~6.0。发酵罐放大培养后, ELISA和 SDS-PAGE分析表明重组HBsAg获得了高效表达, 最终菌体生物量达到310 OD600, 表达量达到27 mg/L。电子显微镜观察表达重组乙肝抗原可以自组装为22 nm类病毒颗粒, 为HBV的新一代早期血清学诊断和疫苗的大规模生产提供了一定的参考。