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Due to extensive application of antibiotics as growth promoters in animal feed, antimicrobial resistance has been increased. To overcome this challenge, rumen microbiologists search for new probiotics to improve the rate of livestock production. The present study was aimed to isolate and evaluate breed-specific lactic acid bacteria (LAB) as potential animal probiotics. The current study was conducted during 10 months from July 2020 to April 2021, in which a total of n=12 strains were isolated from different samples including milk, rumen, and feces of Nilli Ravi Buffaloes. These isolates were evaluated for their antimicrobial potential against common animal pathogens (Bacillus spp., E. coli, Staphylococcus aureus, Salmonella spp., Listeria spp.). All the isolates were identified using 16S rRNA gene sequencing and the phylogenetic analyses inferred that these strains showed close relations to the species of various genera; Enterococcus lactis, Pediococcus pentosaceus, Bacillus subtilis Weissella cibaria, Weissella soli, Bacillus tequilensis, Weissella bombi, Bacillus licheniformis, Lactococcus lactis, Bacillus megaterium, Lactobacillus ruminis, and Lactococcus lactis. NMCC-Ru2 has exhibited the enormous potential of antimicrobial activity, 28 mm, for Salmonella typhimurium;23 mm for Listeria monocytogenes 21 mm for E.coil. Highest resistance was seen in NMCC-Ru2 agasint test antbiotic, like 25.5 mm for Tetracycline. Overall results revesl that the probiotic profile of isolates was achieved using standard criteria, particularly with animal probiotic properties
Devido à extensa aplicação de antibióticos como promotores de crescimento na alimentação animal, a resistência aos antimicrobianos aumentou. Para superar esse desafio, os microbiologistas do rúmen buscam novos probióticos para melhorar a produtividade do gado. O presente estudo teve como objetivo isolar e avaliar bactérias lácticas específicas de raças (BAL) como potenciais probióticos animais. 12 cepas foram isoladas de diferentes amostras, incluindo leite, rúmen e fezes de búfalos Nilli Ravi. Esses isolados foram avaliados quanto ao seu potencial antimicrobiano contra patógenos animais comuns (Bacillus spp., E. coli, Staphylococcus aureus, Salmonella spp., Listeria spp.). Todos os isolados foram identificados por meio do sequenciamento do gene 16S rRNA e as análises filogenéticas inferiram que essas cepas apresentaram estreita relação com as espécies de vários gêneros; Enterococcus lactis, Pediococcus pentosaceus, Bacillus subtilis, Weissella cibaria, Weissella soli, Bacillus tequilensis, Weissella bombi, Bacillus licheniformis, Lactococcus lactis, Bacillus megaterium, Lactobacillus ruminis e Lactococcus lactis. O perfil probiótico dos isolados foi obtido usando critérios padrão, particularmente com propriedades probióticas animais.
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Animales , Búfalos , Enterococcus , Probióticos , Tracto Gastrointestinal , Lactobacillus , AntibacterianosRESUMEN
Abstract Due to extensive application of antibiotics as growth promoters in animal feed, antimicrobial resistance has been increased. To overcome this challenge, rumen microbiologists search for new probiotics to improve the rate of livestock production. The present study was aimed to isolate and evaluate breed-specific lactic acid bacteria (LAB) as potential animal probiotics. The current study was conducted during 10 months from July 2020 to April 2021, in which a total of n=12 strains were isolated from different samples including milk, rumen, and feces of Nilli Ravi Buffaloes. These isolates were evaluated for their antimicrobial potential against common animal pathogens (Bacillus spp., E. coli, Staphylococcus aureus, Salmonella spp., Listeria spp.). All the isolates were identified using 16S rRNA gene sequencing and the phylogenetic analyses inferred that these strains showed close relations to the species of various genera; Enterococcus lactis, Pediococcus pentosaceus, Bacillus subtilis Weissella cibaria, Weissella soli, Bacillus tequilensis, Weissella bombi, Bacillus licheniformis, Lactococcus lactis, Bacillus megaterium, Lactobacillus ruminis, and Lactococcus lactis. NMCC-Ru2 has exhibited the enormous potential of antimicrobial activity, 28 mm, for Salmonella typhimurium;23 mm for Listeria monocytogenes 21 mm for E.coil. Highest resistance was seen in NMCC-Ru2 agasint test antbiotic, like 25.5 mm for Tetracycline. Overall results revesl that the probiotic profile of isolates was achieved using standard criteria, particularly with animal probiotic properties
Resumo Devido à extensa aplicação de antibióticos como promotores de crescimento na alimentação animal, a resistência aos antimicrobianos aumentou. Para superar esse desafio, os microbiologistas do rúmen buscam novos probióticos para melhorar a produtividade do gado. O presente estudo teve como objetivo isolar e avaliar bactérias lácticas específicas de raças (BAL) como potenciais probióticos animais. 12 cepas foram isoladas de diferentes amostras, incluindo leite, rúmen e fezes de búfalos Nilli Ravi. Esses isolados foram avaliados quanto ao seu potencial antimicrobiano contra patógenos animais comuns (Bacillus spp., E. coli, Staphylococcus aureus, Salmonella spp., Listeria spp.). Todos os isolados foram identificados por meio do sequenciamento do gene 16S rRNA e as análises filogenéticas inferiram que essas cepas apresentaram estreita relação com as espécies de vários gêneros; Enterococcus lactis, Pediococcus pentosaceus, Bacillus subtilis, Weissella cibaria, Weissella soli, Bacillus tequilensis, Weissella bombi, Bacillus licheniformis, Lactococcus lactis, Bacillus megaterium, Lactobacillus ruminis e Lactococcus lactis. O perfil probiótico dos isolados foi obtido usando critérios padrão, particularmente com propriedades probióticas animais.
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Objective:To report the first case of sever fever with thrombocytopenia syndrome caused by severe fever with thrombocytopenia syndrome virus (SFTSV) in Puyang city, and to study the epidemiological and molecular characteristics of S, M, L fragments of the SFTSV isolate.Methods:The epidemiological characteristics of this case was analyzed with epidemiological methods. SFTSV was isolated from the patient′s serum sample. Nucleic acid of SFTSV was extracted and detected by fluorescent RT-PCR. A multiplex PCR method was constructed to amplify the nucleic acid sequence of the virus. whole-genome sequencing was performed on the next-generation sequencing platform. MEGA11 and DNAStar was used for homology analysis and a phylogenetic tree was constructed.Results:Epidemiological investigation showed that the patient and his close contacts had no history of travel or tick bite within 14 d, but had a history of fieldwork. The patient′s serum sample was positive for SFTSV nucleic acid. Genetic analysis showed that the S, M, L gene fragments of the first SFTSV isolate in Puyang belonged to genotype E. This isolate shared 94.8%-99.6%, 94.0%-99.8% and 95.7%-99.7% nucleotide sequence homology with the representative strains acquired from GeneBank in S, M, L gene fragments, respectively.Conclusions:This case was the first case of SFTSV-caused severe fever with thrombocytopenia syndrome in Puyang. The SFTSV isolate shared a close homology with domestic isolates, but its genotype was significantly different from the SFTSV strains isolated in Henan in recent years, indicating that it might an imported case from other places in Henan Province or Hubei Province. Disease monitoring and professional training for medical personnel should be strengthened and more attention should be paid to the evolution and mutation of SFTSV.
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Genetics has become one of the most important factors in the etiology of pediatric pancreatitis with advances in technology and clinical studies.Variations in these genes may increase the risk of acute recurrent and chronic pancreatitis in children, accelerate progression to endocrine and exocrine pancreatic insufficiency, and increase the risk of pancreatic cancer in adulthood.This review summarized the clinical research on the relationship between gene variations and pancreatitis, elaborated on the mechanisms, risks, and clinical phenotypes of pancreatitis caused by different gene variations, and analyzed the significance of related gene sequencing in children with pancreatitis.It aims to help pediatricians know the indications of gene sequencing in pediatric pancreatitis and do much better in relevant diagnosis, prognosis evaluation, and genetic counseling.
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Primary immune deficiency disease (PID), caused by a single gene mutation, is caused by the abnormal number and function of immune cells and molecules.PID patients are prone to repeated infection, accompanied by allergy, autoimmunity, auto-inflammation and malignant diseases.The mortality and disability rates of PID are very high.Early diagnosis and treatment are helpful to improve the prognosis.At present, existing screening methods for PID include newborn screening for severe combined immunodeficiency disease using the T cell receptor excision circle assay, screening for agammaglobulinemia using the immunoglobulin Kappa recombining excision circle assay, screening for adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency using the tandem mass spectrometry, screening for specific protein defects using the proteomics, and screening for genetic variates using the next-generation sequencing.This review briefly summarized the current newborn screening technologies for PID, thus providing references for the development of screening PID in the future.
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【Objective】 To determine molecular basis of a rare HLA-A typing results carrying triple A alleles in potential allo-HSCT donor and her family. 【Methods】 HLA-A, -B, -C, -DRB1, -DQB1, -E, -F, -G of 5 members in the family were genotyped at a high-resolution level using next-generation sequencing (NGS). HLA-A of probosita was re-checked using polymerase chain reaction-sequence-based typing (PCR-SBT), and SNP oligonucleotide probes (SNP-array)were scanned with genomic DNA of probosita. 【Results】 There was 162.9Kb duplication in 6p22.1(29, 803, 377-29, 966, 301)of probosita who carried triple A alleles A*02∶01∶01, A*11∶01∶01, A*24∶02∶01. Other two family members were found to carry this haplotype: A*02∶01∶01, A*24∶02∶01, B*54∶01∶01, C*01∶02∶01, DRB1*04∶05∶01, DQB1*04∶01∶01, E*01∶01∶01∶03, F*01∶01∶01, G*01∶01∶01∶01, which as a Mendelian gene was segregated and stably transmitted through two generations. 【Conclusion】 Tiny gene duplication induces one haplotype carries two HLA-A alleles in a potential healthy donor for allo-transplantaion and stably transmits through two generations.Routine HLA typing laboratories should pay more attention to this situation and accurately report.
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【Objective】 To investigate the serology and genotype identification method of B (A) subtype patients. 【Methods】 Test tube method (serology) was used to confirm the clinically difficult ABO blood group samples of 3 patients with ABO blood group; ABO blood group was genotyped by real-time PCR, and the ABO gene exon 1-7 was sequenced to determine the genotype. 【Results】 The forward and reverse blood typing result of three patients was B (A) subtype all with ABO genotype B/O2 and c.640A> G mutation on B allele of exon 7, which meets the characteristics of ABO * BA.04 genotype. 【Conclusion】 The combination of serological and genetic testing could identify difficult blood types such as ABO subtypes accurately and ensure the safety of clinical blood use.
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【Objective】 To study the blood group serology and molecular biology of patients with RhD--, so as to guide clinical blood use. 【Methods】 The EDTA-K2 anticoagulant blood of the patient was detected for Rh antigens and antibodies. Meanwhile, DNA was extracted, and the 1-10 exon of RHCE and RHAG gene was sequenced by Sanger sequencing. 【Results】 The serological test showed O type RhD--, and all spectral cells were positive. RHCE gene sequencing showed RHCE*02/RHCE*02, RHAG gene sequencing showed mutations at site 808 G > A and site 861 G > A of exon 6. 【Conclusion】 When patients were with RhD--, and related immune conditions such as pregnancy and/or transfusion history were present, autologous blood transfusion or plasma exchange could be an option for emergency blood use.
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Objective: To explore the composition of bacteria in lower respiratory tract of patients with pneumoconiosis and dust exposure, and to compare and analyze the difference and correlation between them. Methods: From May 2020 to January 2021, a prospective multicenter cross-sectional study was conducted to select patients with pneumoconiosis who underwent bronchoalveolar lavage treatment at the Respiratory and Critical Care Medical Department of the 920th Hospital of the Joint Support Force and the Respiratory Department of Tongren Hospital in Kunming, as well as the population of dust recipients. A total of 24 patients with pneumoconiosis (pneumoconiosis group) were included, and 16 dust exposed individuals (dust exposed group) were used as controls. Two groups of patients' alveolar lavage fluid were collected. The 16SrRNA gene V3-V4 sequencing technology and bioinformatics analysis platform were used to measure and analyze the differences in microbial structure composition and associations between bacterial communities. Results: Compared with the dust exposed group, the top 5 bacterial phyla in the alveolar lavage fluid level of patients with pneumoconiosis were the same, followed by Proteobacteria, Firmicutes, Bacteroidetes, Fusobacteria, and Actinobacteria. Compared with the dust exposure group, the pneumoconiosis group patients belong to the top 5 genera of horizontal flora abundance, which are different. The dust exposure group is respectively: Pseudomonas, Proctor, Streptococcus, Achromobacter, and Neisseria. The pneumoconiosis group is respectively: Pseudomonas, Achromobacter, Streptococcus, Ralstonia, and Proctor. The Alpha diversity analysis results showed that compared with the dust exposed group, the level of bacterial diversity in the pneumoconiosis group was difference (P<0.05), and there was no statistically significant difference in bacterial evenness (P>0.05) ; Beta diversity showed differences in microbial community structure between the two groups (P<0.05 ). Single factor microbial association network analysis showed that there was a high correlation between Firmicutes and Bacteroidetes in the pneumoconiosis and dust exposed groups and other species, showing a positive correlation; The correlation between Proteobacteria and other species is high, showing a negative correlation. Conclusion: The structure and relative abundance of bacteria in lower respiratory tract were different between patients with pneumoconiosis and dust exposure, and the diversity of bacteria in lower respiratory tract increased in patients with pneumoconiosis, which may be related to disease status.
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Humanos , Estudios Transversales , Estudios Prospectivos , Neumoconiosis , Bacterias/genética , Polvo , Sistema RespiratorioRESUMEN
ObjectiveTo explore the intervention effect of Erxian decoction on intestinal microflora after ovariectomy in rats by 16S rRNA gene sequencing. MethodThirty-two female healthy SD rats were randomly divided into a Sham operation （Sham） group， a model （OVX） group， an estrogen （E） group， and an Erxian decoction （EXD） group， with 8 rats in each group. The rats in the E group and the EXD group received 1.8×10-4 g·kg-1 estradiol valerate solution and 9 g·kg-1 Erxian decoction， respectively， and those in the Sham group and the OVX group received an equal volume of distilled water once a day for 16 weeks. After 16 weeks， the levels of serum estrogen and blood lipid were detected. The fecal DNA was extracted， followed by 16S rRNA gene sequencing and analysis. ResultCompared with the Sham group， the OVX group showed reduced serum estrogen level （P<0.01） and increased serum levels of total cholesterol （TC） and low-density lipoprotein cholesterol （LDL-C） （P<0.05）. Compared with the OVX group， the E group and the EXD group showed increased serum estrogen level （P<0.01） and reduced TC and LDL-C （P<0.05）. Alpha diversity showed that there was no significant change in intestinal microflora diversity after ovariectomy. Beta diversity showed that there were significant differences in the structure of intestinal microflora in the four groups. The intervention of Erxian decoction could improve the changes in intestinal microflora after ovariectomy. LEfSe was used to analyze the differential flora in the four groups. The results showed that the Sham group and the OVX group had 3 differential bacterial phyla and 18 differential bacterial genera， the OVX group and the E group had 1 differential bacterial phylum and 12 differential bacterial genera， and the OVX group and the EXD group had 3 differential bacterial phyla and 5 differential bacterial genera. Estrogen intervention could reverse the change trend of Ruminococcus 1， Anaerovibrio， and Turicibacter in the OVX group. Erxian decoction intervention could reverse the change trend of Bacteroidetes， Firmicutes， Prevotella 9， Ruminococcaceae UCG-014， Ruminococcus 1， and Fusicatenibacter in the OVX group. ConclusionThe structure and function of intestinal microflora in ovariectomized rats changed obviously， and Erxian decoction could ameliorate the change.
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OBJECTIVE@#To investigate the changes of gene sequencing and proteomics of apheresis platelet (AP) exosomes in different storage periods and predict the function of AP exosomes in different storage periods.@*METHODS@#Platelets at different storage periods of 0 day (D0), 3 day (D3) and 5 day (D5) were collected, exosomes were extracted with Gradient centrifugation; gene sequencing and proteomic analysis were used to analyze the exosomes, and biological functions of platelet exosomes were analyzed and predicted by bioinformatics. Liquid mass spectrometry (LMS) was used to detect the changes and function prediction of exosomes proteins. The small RNA sequencing library was prepared, and the constructed library was sequenced and bioinformatics technology was used for data analysis.@*RESULTS@#AP exosome iTRAQ protein analysis showed that AP exosomes stored in D3 with 55 up-regulated proteins and 94 down-regulated proteins (P<0.05, FC<0.83 or FC>1.2), while AP exosomes stored in D5 with 292 up-regulated proteins and 53 down-regulated proteins (P<0.05, FC<0.83 or FC>1.2) as compared with D0. KEGG pathway analysis showed that the proteins were mainly involved in transport and metabolism, immune system, cancer, membrane transport and other processes. There were statistically significant differences between AP exosome miRNAs in different storage days (P<0.01). The number of miRNA up-regulated and down-regulated was 374 and 255 as compared with the number of platelet exosomes miRNA stored in D3 and D0, while that was 297 and 242 in D5 and D0, and 252 and 327 in D5 and D3, respectively. The target genes of differential platelet exosome miRNAs were analyzed by GO enrichment. Target genes of differential miRNA were mainly involved in membrane composition, mainly played molecular functions binding to proteins, and participated in biological processes of transcriptional regulation.@*CONCLUSION@#The exosome differential proteins and miRNAs in D5 are significantly different from those in the D0 of APs, and they are involved in various biological processes.
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Humanos , Eliminación de Componentes Sanguíneos , Plaquetas/metabolismo , Exosomas/metabolismo , MicroARNs/genética , ProteómicaRESUMEN
@#Abstract: To analyze the clinical, therapeutic and laboratory characteristics of disseminated cryptococcosis caused by Cryptococcus neoformans invading the blood stream in patient with liver cirrhosis and splenectomy. A 30-year-old male underwent splenectomy plus pericardial devascularization due to "splenomegaly and hypersplenism" in March in 2016. The patient had intermittent fever after operation for many times, and successively accompanied with back pain, left lower limb abscess and right hip pain. The highest body temperature was 39 ℃. CT and MRI revealed the lung lesion and multiple bone destruction. During that period, the effect of antibiotics was not good. On April 19th, 2017, Gram's stain, India ink stain, API 32C, Vitek 2 Compact, ribosomal ITS and IGS sequence analysis were performed to identify the strain isolated from the pus and blood stream. The serum of the patient was detected for cryptococcal antigen. Antifungal susceptibility test was used to determine drug sensitivity and minimum inhibitory concentration (MIC). The Cryptococcus neoformans isolated from fresh pus specimen showed a prominent, thick capsule after India ink stain. The colonies isolated from pus and blood stream were identified Cryptococcus neoformans using API 32C, Vitek 2 Compact, and sequence analysis of rDNA ITS and IGS. Cryptococcal capsule antigen was positive. The minimal inhibitory concentrations of 5-Flucytosine, amphotericin B, fluconazole, itriconazole, voriconazole against the isolate were <4 μg/mL, <0.5 μg/mL, 4 μg/mL, ≤0.25 μg/mL, 0.125 μg/mL respectively. The patient was initially treated with intravenous amphotericin B and flucytosine. After anti-Cryptococcus treatment for two months, the patient clinically improved, and the lesions were reduced on a follow-up CT scan. The patient made a full functional recovery after treatment for six months. Cryptococcosis has hidden onset, atypical clinical symptoms and lack of specificity. Blood stream is the main channel for Cryptococcus to spread and involve many organs of the whole body, including skin, bone and so on. Therefore, early use of blood culture to monitor blood flow dissemination, actively removing the primary focus and cutting off the infection route in time and carrying out effective anti-Cryptococcus treatment are conducive to the patient's early recovery.
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Botulism is a disease usually fatal, caused by the ingestion of neurotoxins produced by Clostridium botulinum. In dogs, intoxication is caused by the ingestion of botulinum toxin type C, and animals often recover spontaneously. The present study describes the occurrence of type C botulism in two dogs domiciled on neighboring rural properties in the municipality of Goiânia, state of Goiás, Brazil, probably associated with ingestion of decomposing bovine carcass. Upon clinical evaluation, the dogs were alert in the lateral decubitus position with ascending flaccid paralysis, absence of eyelid reflexes, and reduced muscle tone. Due to their worsening clinical symptoms, the animals died within 12 h and 3 days after supportive treatment. Botulinum toxin type C was identified, in the serum and feces of both dogs, by seroneutralization in mice with homologous monovalent antitoxin. The results of the high-throughput gene sequencing showed that the abundance of C. botulinum in the fecal microbiota of one of the affected dogs was low (0.53%). In this way, the present study highlights the need of sanitary practices related to the appropriate collection and disposal of bovine carcasses in rural areas since they represent a risk factor for the occurrence of botulism in dogs domiciled on rural properties.
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Animales , Perros , Ratones , Toxinas Botulínicas/análisis , Botulismo/epidemiología , ARN Ribosómico 16S , Análisis de Secuencia de ARN/veterinaria , Clostridium botulinum tipo C/aislamiento & purificación , Bioensayo/veterinariaRESUMEN
The urinary system of healthy people harbors residential urinary microbiota which closely related to human health.The changes of urinary micro-ecology are associated with the occurrence、development and prognosis of various urinary diseases.This review shows the basic procedure of studying the microbiome of the urinary system, and the correlation between the urinary diseases and the microbiome of the urinary tract.By focusing on the relationship between urinary microbiome and recurrent urinary tract infection in children, new ideas would be found for diagnosis and treatment of children’s recurrent urinary tract infection.
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【Objective】 To study the serological characteristics and genetic background of 20 samples with ABO blood group discrepancies in Shenyang. 【Methods】 Serological test, polymerase chain reaction-sequence specific primer (PCR-SSP) and sequencing of the full coding of ABO gene and the Intron 1 were conducted in 20 samples with ABO blood group discrepancies. 【Results】 Ten subtypes (Am, Bw, Bx, B3,, A2B, AxB, A2Bw, A2Bx, AwB and ABw) were detected in 20 samples, with AB subtype as the dominant. Sixteen ABO alleles were found, including 5 common alleles (A1.01, A1.02, B. 01, O. 01.01 and O. 01.02), nine rare alleles (AW.37, BW.03, BW.08, B3.07, cisAB.02, cisAB.03, cisAB.06, BA.04 and O. 01.04) and two novel alleles (AM.03 and cisAB.07). The AM.03 allele had a nucleotide change at position 912 (C to A) compared with A1.02 allele, which resulted in an amino acid substitution (S304R). The cisAB.07 allele was observed a missense mutation at position 797 (T to C) which resulted in an amino acid substitution (M266R) compared with B. 01 allele. The serologic had been changed, and both A antigen and B antigen were expressed. 【Conclusion】 The study revealed the genetic background of 20 samples with ABO blood group discrepancies, and two new alleles as ABO*AM.03 (912 C to A) and ABO*cisAB.07 (797 T to C) were first reported.
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The mutations are genetic changes in the genome sequences and have a significant role in biotechnology, genetics, and molecular biology even to find out the genome sequences of a cell DNA along with the viral RNA sequencing. The mutations are the alterations in DNA that may be natural or spontaneous and induced due to biochemical reactions or radiations which damage cell DNA. There is another cause of mutations which is known as transposons or jumping genes which can change their position in the genome during meiosis or DNA replication. The transposable elements can induce by self in the genome due to cellular and molecular mechanisms including hypermutation which caused the localization of transposable elements to move within the genome. The use of induced mutations for studying the mutagenesis in crop plants is very common as well as a promising method for screening crop plants with new and enhanced traits for the improvement of yield and production. The utilization of insertional mutations through transposons or jumping genes usually generates stable mutant alleles which are mostly tagged for the presence or absence of jumping genes or transposable elements. The transposable elements may be used for the identification of mutated genes in crop plants and even for the stable insertion of transposable elements in mutated crop plants. The guanine nucleotide-binding (GTP) proteins have an important role in inducing tolerance in rice plants to combat abiotic stress conditions.
Mutações são alterações genéticas nas sequências do genoma e têm papel significativo na biotecnologia, genética e biologia molecular, até mesmo para descobrir as sequências do genoma de um DNA celular junto com o sequenciamento do RNA viral. As mutações são alterações no DNA que podem ser naturais ou espontâneas e induzidas devido a reações bioquímicas ou radiações que danificam o DNA celular. Há outra causa de mutações, conhecida como transposons ou genes saltadores, que podem mudar sua posição no genoma durante a meiose ou a replicação do DNA. Os elementos transponíveis podem induzir por si próprios no genoma devido a mecanismos celulares e moleculares, incluindo hipermutação que causou a localização dos elementos transponíveis para se moverem dentro do genoma. O uso de mutações induzidas para estudar a mutagênese em plantas cultivadas é muito comum, bem como um método promissor para a triagem de plantas cultivadas com características novas e aprimoradas para a melhoria da produtividade e da produção. A utilização de mutações de inserção por meio de transposons ou genes saltadores geralmente gera alelos mutantes estáveis que são marcados quanto à presença ou ausência de genes saltadores ou elementos transponíveis. Os elementos transponíveis podem ser usados para a identificação de genes mutados em plantas de cultivo e até mesmo para a inserção estável de elementos transponíveis em plantas de cultivo mutadas. As proteínas de ligação ao nucleotídeo guanina (GTP) têm papel importante na indução de tolerância em plantas de arroz para combater as condições de estresse abiótico.
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Oryza/genética , Fenotipo , Elementos Transponibles de ADN/genética , Expresión Génica , Guanosina TrifosfatoRESUMEN
The mutations are genetic changes in the genome sequences and have a significant role in biotechnology, genetics, and molecular biology even to find out the genome sequences of a cell DNA along with the viral RNA sequencing. The mutations are the alterations in DNA that may be natural or spontaneous and induced due to biochemical reactions or radiations which damage cell DNA. There is another cause of mutations which is known as transposons or jumping genes which can change their position in the genome during meiosis or DNA replication. The transposable elements can induce by self in the genome due to cellular and molecular mechanisms including hypermutation which caused the localization of transposable elements to move within the genome. The use of induced mutations for studying the mutagenesis in crop plants is very common as well as a promising method for screening crop plants with new and enhanced traits for the improvement of yield and production. The utilization of insertional mutations through transposons or jumping genes usually generates stable mutant alleles which are mostly tagged for the presence or absence of jumping genes or transposable elements. The transposable elements may be used for the identification of mutated genes in crop plants and even for the stable insertion of transposable elements in mutated crop plants. The guanine nucleotide-binding (GTP) proteins have an important role in inducing tolerance in rice plants to combat abiotic stress conditions.
Mutações são alterações genéticas nas sequências do genoma e têm papel significativo na biotecnologia, genética e biologia molecular, até mesmo para descobrir as sequências do genoma de um DNA celular junto com o sequenciamento do RNA viral. As mutações são alterações no DNA que podem ser naturais ou espontâneas e induzidas devido a reações bioquímicas ou radiações que danificam o DNA celular. Há outra causa de mutações, conhecida como transposons ou genes saltadores, que podem mudar sua posição no genoma durante a meiose ou a replicação do DNA. Os elementos transponíveis podem induzir por si próprios no genoma devido a mecanismos celulares e moleculares, incluindo hipermutação que causou a localização dos elementos transponíveis para se moverem dentro do genoma. O uso de mutações induzidas para estudar a mutagênese em plantas cultivadas é muito comum, bem como um método promissor para a triagem de plantas cultivadas com características novas e aprimoradas para a melhoria da produtividade e da produção. A utilização de mutações de inserção por meio de transposons ou genes saltadores geralmente gera alelos mutantes estáveis que são marcados quanto à presença ou ausência de genes saltadores ou elementos transponíveis. Os elementos transponíveis podem ser usados para a identificação de genes mutados em plantas de cultivo e até mesmo para a inserção estável de elementos transponíveis em plantas de cultivo mutadas. As proteínas de ligação ao nucleotídeo guanina (GTP) têm papel importante na indução de tolerância em plantas de arroz para combater as condições de estresse abiótico.
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Elementos Transponibles de ADN/genética , Mutación/genética , Nucleótidos de Guanina/análisis , Oryza/genéticaRESUMEN
Abstract The mutations are genetic changes in the genome sequences and have a significant role in biotechnology, genetics, and molecular biology even to find out the genome sequences of a cell DNA along with the viral RNA sequencing. The mutations are the alterations in DNA that may be natural or spontaneous and induced due to biochemical reactions or radiations which damage cell DNA. There is another cause of mutations which is known as transposons or jumping genes which can change their position in the genome during meiosis or DNA replication. The transposable elements can induce by self in the genome due to cellular and molecular mechanisms including hypermutation which caused the localization of transposable elements to move within the genome. The use of induced mutations for studying the mutagenesis in crop plants is very common as well as a promising method for screening crop plants with new and enhanced traits for the improvement of yield and production. The utilization of insertional mutations through transposons or jumping genes usually generates stable mutant alleles which are mostly tagged for the presence or absence of jumping genes or transposable elements. The transposable elements may be used for the identification of mutated genes in crop plants and even for the stable insertion of transposable elements in mutated crop plants. The guanine nucleotide-binding (GTP) proteins have an important role in inducing tolerance in rice plants to combat abiotic stress conditions.
Resumo Mutações são alterações genéticas nas sequências do genoma e têm papel significativo na biotecnologia, genética e biologia molecular, até mesmo para descobrir as sequências do genoma de um DNA celular junto com o sequenciamento do RNA viral. As mutações são alterações no DNA que podem ser naturais ou espontâneas e induzidas devido a reações bioquímicas ou radiações que danificam o DNA celular. Há outra causa de mutações, conhecida como transposons ou genes saltadores, que podem mudar sua posição no genoma durante a meiose ou a replicação do DNA. Os elementos transponíveis podem induzir por si próprios no genoma devido a mecanismos celulares e moleculares, incluindo hipermutação que causou a localização dos elementos transponíveis para se moverem dentro do genoma. O uso de mutações induzidas para estudar a mutagênese em plantas cultivadas é muito comum, bem como um método promissor para a triagem de plantas cultivadas com características novas e aprimoradas para a melhoria da produtividade e da produção. A utilização de mutações de inserção por meio de transposons ou genes saltadores geralmente gera alelos mutantes estáveis que são marcados quanto à presença ou ausência de genes saltadores ou elementos transponíveis. Os elementos transponíveis podem ser usados para a identificação de genes mutados em plantas de cultivo e até mesmo para a inserção estável de elementos transponíveis em plantas de cultivo mutadas. As proteínas de ligação ao nucleotídeo guanina (GTP) têm papel importante na indução de tolerância em plantas de arroz para combater as condições de estresse abiótico.
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Objective:To investigate the correlation between gut microbiota and serum diamine oxidase (DAO) level and to analyze the differences in gut microbiota between high DAO (DAO-H) and normal DAO populations.Methods:This study recruited 62 adult volunteers (31 in DAO-H group and 31 in normal control group) taking health examination in the Strategic Support Forces Special Medical Center in 2021. Their stool samples were collected to analyze the composition of gut microbiota in the two populations by full-length 16S rRNA gene sequencing.Results:No significant difference in the alpha diversity of gut microbiota was found between the DAO-H group and the normal control group, but the structure and function of gut microbiota varied. In the DAO-H group, commensal bacteria decreased, such as Phocaeicola and Bacteroidetes, while potential pathogenic bacteria increased, such as Klebsiella pneumoniae. There were changes in the metabolism of gut microbiota in the DAO-H group, including inhibited sphingolipid metabolism and enhanced biosynthesis of vancomycin group antibiotics, one carbon pool by folate pathway, terpenoid backbone biosynthesis, cell cycle-Caulobacter, protein export, base excision repair and nitrogen metabolism.Conclusions:Compared with the people with normal DAO, the population with high DAO had unique characteristics in gut microbiota composition and metabolism.
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Objective:To investigate the clinical and genetic characteristics of genetic and metabolic infantile cholestatic hepatopathy (ICH), and to provide evidence for its diagnosis and treatment.Methods:Clinical data and follow-up outcomes of hospitalized children diagnosed with ICH in the Department of Gastroenterology, Children′s Hospital, Capital Institute of Pediatrics from January 2014 to December 2019 were retrospectively analyzed.Among the 80 children, 27 were female and 53 were male, with a mean age of onset of (39±18) days old.Children with confirmed etiology by high-throughput sequencing analysis were included in the genetic metabolic group (44 cases), and those with idiopathic neonatal cholestasis(INC) of unknown etiology after the systematic examination were included in the INC group (36 cases). The t-test or independent sample rank sum test was used to compare the laboratory test results and biochemical indexes.The infection rate of cytomegalovirus was compared by the Chi- square test. Results:(1) A total of 80 cases were included, and 44 cases (55.0%)were confirmed as INC by high-throughput sequencing.Among those with a positive molecular diagnosis, there were 23 cases of citrin deficiency (CD), 10 cases of Alagille syndrome (ALGS), 6 cases of progressive familial intrahepatic cholestasis (PFIC), 2 cases of congenital bile acid synthesis defect, 2 cases of Nieman Pick disease, and 1 case of cystic fibrosis.(2) Serum total bile acid (TBA) and activated partial prothrombin time (APTT) levels in the genetic metabolic group were significantly higher than those in the INC group (all P<0.05). TBA and APTT levels in genetic metabolites were 180.6 (115.5, 271.6) μmol/L and 40.6 (37.1, 45.2) s, respectively, which were 123.3 (98.8, 163.4) μmol/L and 34.8 (31.7, 40.1) s in INC group, respectively.There was no significant difference in the cytomegalovirus infection rate between the 2 groups ( P>0.05). (3)The pathological examination of liver tissue in the genetic metabolic group was worse than that in the INC group, with spot-like and fusion focal-like necrosis, and 5 cases (4 cases of ALGS and 1 case of CD) showed a reduced number of bile ducts in the portal area and lumen stenosis. Conclusions:CD, ALGS and PFIC are the common causes of genetic and metabolic ICH.Fundamental cause of cholestasis should be actively examined in children with cytomegalovirus infection.High-throughput sequencing is of great significance in the accurate diagnosis of ICH.