复杂疾病的遗传咨询技术

复杂疾病大面积爆发使人们的生活健康面临着重大挑战。在这一环境下,遗传咨询在人们的生活中占据了越来越重要的地位。依据基因与环境互作共同影响个体健康的原理,咨询者在遗传咨询师的指导帮助下合理解决各种遗传学问题可以有效降低复杂疾病的发病率。目前国内的遗传咨询发展尚处于萌芽期,随着遗传咨询在健康领域的地位上升,该技术在未来将会进一步推广应用。     

Complications and management of a long-term pleural access port in a dog with chronic chylothorax associated with lung lobe torsion

A 2-year-old neutered male 35-kg golden retriever mixed breed dog was presented because of a 3-day history of increased respiratory effort. The patient was subsequently diagnosed with a lung lobe torsion and underwent lung lobectomy. Chylothorax developed after surgery and persisted for 3.5 y. Pleural access port (PAP) placement was used for long-term medical management. Several complications were encountered, including 2 episodes of PAP occlusion that were successfully treated with unfractionated heparin. The dog had a surgical site seroma and 2 episodes of pleuritis; euthanasia was elected after the second episode.Key clinical message:This case demonstrates successful long-term management of chylothorax with a pleural access port and management of 3 complications. Instead of the less accessible and more expensive tissue plasminogen activator, unfractionated heparin was used as an effective treatment for PAP occlusions.     

Effects of dietary oregano essential oil supplementation on growth performance,intestinal antioxidative capacity,immunity, and intestinal microbiota in yellow-feathered chickens

Essential oils are plant-derived aromatic volatile oils, and they contain bioactive compounds that have been shown to improve poultry nutrition. In this study, we investigated the effects of oregano essential oil (OEO) on intestinal antioxidative capacity, immunity, and gut microbiota of young yellow-feathered chickens. A total of nine hundred and sixty 1-d-old female Qingyuan partridge chickens were randomly allocated to four treatment groups with six replicates of 40 birds each, and the feeding trial was lasted for 30 d. The controls were fed on a basal diet without in-feed antibiotics; the birds in the antibiotic group were fed the basal diet supplemented with 20 mg/kg virginiamycin; the remaining birds were fed the basal diet containing 150 or 300 mg/kg OEO, respectively. Dietary supplementation with 150 or 300 mg/kg OEO increased average daily feed intake (P = 0.057) and average daily gain (P < 0.05). The activities of glutathione peroxidase and total antioxidative capacity in plasma, jejuna, and ileal mucosa were increased by OEO supplementation (P < 0.05), with a trend of lower jejunal content of malonaldehyde (P = 0.062). Moreover, dietary OEO increased the content of secretory immunoglobulin A (P = 0.078) and the relative expression of Claudin 1, Mucin 2, and Avain beta-defensin 1 in ileum (P < 0.05). Sequencing data of 16S rRNA indicated that dietary OEO increased the relative abundance of Firmicutes phylum, and Clostridium and Lactobacillus genera, and decreasing that of Romboutsia. Functional analyses indicated that microbial amino sugar and nucleotide sugar metabolism, replication, and repair systems were higher in OEO groups than those of controls and antibiotic treatment. In conclusion, dietary supplementation with OEO enhanced growth performance, alleviated local oxidative stress in intestine, improved production of natural antibodies, and favorably modulated intestinal microbiota composition.     

猪C1QTNF3基因可变剪接体的鉴定及介导miR-101调控成脂分化的研究

旨在研究猪C1QTNF3基因可变剪接体的特性及miR-101通过C1QTNF3基因促进猪脂肪SV细胞成脂分化的机制。本研究采集3头30日龄健康马身猪仔公猪心、肝、脾、肺、肾、胃、股二头肌、腰大肌、皮下脂肪和背部脂肪组织样品,首先利用RT-PCR技术和生物信息学方法对C1QTNF3基因的不同转录本进行扩增和生物学特性分析,采用qRT-PCR技术检测C1QTNF3基因不同转录本在猪组织中的表达变化。随后,利用生物信息学预测发现,C1QTNF3上游的调控因子是miR-101,采用双荧光素酶报告试验验证miR-101对C1QTNF3的调控作用。最后,利用油红O染色和qRT-PCR技术检测过表达miR-101对猪脂肪SV细胞成脂分化的影响。基因克隆得到猪C1QTNF3存在两个转录本C1QTNF3和C1QTNF3-1,其中C1QTNF3-1为新鉴定的转录本;测序分析显示,与C1QTNF3相比,C1QTNF3-1的第1外显子区域缺失了219个碱基,少编码73个氨基酸。进化树分析显示,猪C1QTNF3和C1QTNF3-1蛋白序列与人和马来亚穿山甲等物种的亲缘关系较近。C1QTNF3和C1QTNF3-1在猪各组织中均有表达,且在各组织中C1QTNF3-1的表达量均极显著高于C1QTNF3（P<0.01）。过表达miR-101极显著下调C1QTNF3 3'UTR区域的荧光素酶活性（P<0.01）和C1QTNF3 mRNA的表达（P<0.01）,同时增加了脂肪细胞成脂分化关键基因PPARγ、C/EBPβ、SREBP-1c和FABP4的mRNA表达量（P<0.01）。本试验成功克隆了猪C1QTNF3基因的两个可变剪接体,其中C1QTNF3-1在猪不同组织中均高表达,推测该转录本为基因发挥功能的主要亚型。并深入研究了C1QTNF3基因的上游调控因子,揭示了miR-101靶向C1QTNF3促进成脂分化的机制,丰富了C1QTNF3的生物学作用和调控网络。     

禁抗前后规模鸡场环境中金黄色葡萄球菌和大肠杆菌对15种抗菌药的敏感性比较

为了解规模鸡场两种环境细菌在禁抗前后耐药性的变化,以评估使用抗菌药对养殖场用药的影响,通过对禁抗前以及禁抗6个月后规模鸡场的环境进行采样,培养分离大肠杆菌和金黄色葡萄球菌(金葡菌),然后针对15种常见抗菌药物开展药敏试验,并对敏感性进行比对。结果显示:禁抗前规模鸡场分离的大肠杆菌对妥布霉素、林可霉素、头孢拉定、卡拉霉素等较敏感,而对磺胺异噁唑、土霉素、头孢唑林和青霉素等耐药;金葡菌对头孢曲松、卡拉霉素、头孢唑啉、氟苯尼考等较敏感,而对土霉素、磺胺异噁唑、庆大霉素、妥布霉素等耐药。禁抗6个月后,两种细菌对大部分抗菌药的敏感性都有不同程度的增加,但对土霉素、磺胺异噁唑、氟苯尼考、青霉素等的敏感性增加不多甚至有降低。结果表明禁抗总体上可以增强鸡场环境中两种细菌对抗菌药的敏感性,降低耐药性。本文为指导规模鸡场禁用和科学使用抗菌药物提供了数据支持。     

Protein and energy concentrations of meat meal and meat and bone meal fed to pigs based on in vitro assays

The objective of this study was to develop equations for estimating ileal digestible crude protein (CP) and metabolizable energy (ME) contents of meat meal (MM) and meat and bone meal (MBM) as feed ingredients for pigs based on in vitro assays. Test ingredients were 4 sources of MM and 3 sources of MBM. Ash and CP contents of the ingredients ranged from 3.8% to 33.1% and 46.8% to 82.9% (as-is basis), respectively. In vitro ileal disappearance (IVID) of CP was determined and ileal digestible CP content was calculated by multiplying CP content by IVID of CP. In vitro total tract disappearance (IVTTD) of dry matter (DM) was determined and ME was calculated using gross energy, CP contents, and IVTTD of DM. The IVID of CP and IVTTD of DM ranged from 77.2% to 88.7% and from 82.7% to 92.4%, respectively. Calculated ileal digestible CP and ME contents ranged from 37.8% to 73.5% DM and 2,405 to 3,905 kcal/kg DM, respectively. Ash contents were negatively correlated (P < 0.001) with CP (r = −0.99), in vitro ileal digestible CP (r = −0.97), gross energy (r = −1.00), in vitro digestible energy (r = −0.97), and adjusted ME (r = −0.97). The most fitting equations for ileal digestible CP and adjusted ME were: ileal digestible CP (% DM) = 11.91 − 0.90 × Ash (% DM) + 0.74 × IVID of CP (%) (R² = 0.99) and adjusted ME (kcal/kg DM) = 130.85 − 50.90 × ash (% DM) + 47.06 × IVTTD of DM (%) (R² = 0.99). To validate the accuracy of the prediction equations for ME, mean bias and linear bias were determined using a regression analysis. Calculated ME values of MM and MBM were in a good agreement with data obtained from animal experiments based on a statistically insignificant bias in the models. In conclusion, ME concentrations of MM and MBM as swine feed ingredients can be calculated using ash concentration and in vitro disappearance of dry matter.     

野生二粒小麦与野生燕麦族间杂交研究——Ⅱ、杂种 F_2成株期形态学和细胞学研究

野生二粒小麦与野生燕麦杂交F_2共61株,其中抽穗前(?)亡和黄化未能抽穗的共21株。分离出野生二粒小麦型、硬粒小麦型、斯卑尔脱小麦型、燕麦型和普通小麦型。野生二粒小麦型结实率11.2～63.5%,PMC染色体数为27～36。硬粒小麦型结实正常,PMC染色体数为2n=14″。斯卑尔脱小麦型结实率2.7～43.4%,PMC染色体数为37～50。燕麦型结实基本正常,PMC染色体数为41～43,出现1～2个单价体。普通小麦型的护颖包裹籽粒较松,不断穗节,容易脱粒,染色体数为39～45,结实率1.2～68.2%。杂种F_2不同类型植株的PMC染色体数为27～50,每株能抽穗扬花的植株都能结实,结实率1.2～92.3%。杂种F_2的小麦型中有一部分植株的芒长在外颖背上,表现出燕麦族的分类特征性状。     

Fortification of Wheat Dough with Calcium and Magnesium Ions Affects Empirical Rheological Properties

This study evaluated the influence of calcium and magnesium ions on the empirical rheological properties of wheat flour to verify possible effects of these ions on processing because, in addition to their nutritional importance, they are also responsible for water hardness. Calcium (0–1.30 g/100 g) and magnesium (0–0.34 g/100 g) ions from sulfate salts were added to wheat flour, according to a central composite rotatable design. The farinograph and extensigraph properties of wheat flour and its mixtures were evaluated. The results were analyzed by response surface methodology. Calcium ions stood out for increasing water absorption, decreasing mixing stability, and producing a delayed effect on dough extensibility (reduced at 135 min). Magnesium ions influenced most flour rheological properties in a similar manner to oxidizing agents (increased dough stability, increased resistance to extension, and reduced extensibility), thus proving to be a possible replacement agent for these additives. An interaction effect of the combined calcium and magnesium ions was observed on dough development time. The results showed that effects on processing can occur when wheat flour fortification is made, and adaptations on wheat flour specifications, product formulation, and processing parameters may be required.