A pot experiment was conducted to study the dynamic changes of soil enzyme activities and microbial biomass in rhizosphere using two-year-old Hanfu apple.The results showed that: In different soils,microbial biomass C,N,urcase activities and catalase indicated a tendency of loam soilclaysandy soil in total;Phosphatase activities indicated a tendency of clayloamsandy soil.In different developmental stages,microbial biomass C was the lowest in fast growing phase of shoots,and the highest in defoliation phase;microbial biomass N was the lowest in germinating phase,and the highest in withholding growing phase of spring shoots;urcase was the highest in fast growing phase of shoots,phosphatase and catalase were the highest in defoliation phase.The correlation between microbial biomass and enzyme activities was high.The regression equations between microbial biomass and soil enzyme activities were obtained by using a stepwise regression method.The principal component analysis reflected that the microbial biomass N and urcase have higher coefficient in every major constituent,so the two properties can be considered to be the most important soil biological factors in the cool and cold regions.
Limb-girdle muscular dystrophy recessive 1 (LGMDR1), a rare subtype of muscular dystrophy, is characterized by progressive muscle weakness and degeneration with a predominant presentation on the shoulder, pelvic and proximal limb muscles. Variants in calcium-activated neutral proteinase 3 (CAPN3), which encodes an enzyme, calpain 3, are considered the major cause of LGMDR1. The present study was conducted to identify the variants responsible for clinical symptoms in a Chinese patient with limb-girdle muscular dystrophies (LGMDs) and explore its genotype-phenotype associations. A series of clinical examinations were conducted, including blood tests and magnetic resonance imaging scans of the lower legs, electromyography and muscle biopsy on the proband diagnosed with muscular dystrophies. Genomic DNA was extracted from the peripheral blood of a three-person family with LGMDs and pathogenic variants detected by whole-exome sequencing (WES) were verified by Sanger sequencing. The WES of this patient revealed compound heterozygous variants in CAPN3, c.2120A>G/p.(Asp707Gly) in exon 20 and c.2201_2202delAT/p.(Tyr734*) in exon 21, which were inherited from his parents and absent from 200 control individuals of similar ethnic origin, indicating that these variants are the pathogenic triggers of the LGMDR1 phenotype. Notably, these CAPN3 sequence variants were related to LGMDR1 pathogenesis in this three-person family. The newly discovered c.2201_2202delAT/p.(Tyr734*) expands the current CAPN3 variant spectrum, improving the understanding of the conditions required to develop molecular diagnostic tools and for genetic counseling, particularly for families with a history of autosomal recessive LGMDs.
Acids, sugars, and sugar alcohols in the fruits of 22 cultivars/origins of three species of hawthorn (Crataegus spp.) were analyzed by gas chromatography and mass spectrometry. Citric acid (2.0-8.4 g/100 g dry mass [DM]), quinic acid (0.5-5.6 g/100 g DM), malic acid (0.3-1.1 g/100 g DM), fructose (5.5-18.4 g/100 g DM), glucose (5.3-16.6 g/100 g DM), sorbitol (3.0-15.7 g/100 g DM), and myo-inositol (0.1-0.3 g/100 g DM) were found in all the samples. Sucrose was present only in C. scabrifolia and three cultivars of C. pinnatifida var. major. C. scabrifolia differed from other species by its high content of quinic acid. The cultivars of C. pinnatifida var. major and C. brettschneideri had a higher content of total sugars and a higher sugar/acid ratio than the natural origins of C. pinnatifida and C. scabrifolia (P < 0.05). The hawthorn samples analyzed fell into two groups rich in sugars and acids respectively. This is the first report of the profiles of sugars and sugar alcohols and the occurrence of quinic acid in hawthorn fruits.
Objective To study the clinical and genetic features of a family with hereditary spastic paraplegia(HSP).Methods The patients were from a large Linyi family.Five members were clinically diagnosed with HSP according to Harding's criteria Blood samples were collected from family members.Genomic DNA was extracted from total blood samples using a standard phenol-chloroform extraction.The genetic linkage analysis was performed using microsatellite markers.Two-point linkage analysis was performed using the LINKAGE program.Five members underwent detailed neurological examinations and 4 members underwent electrophysiological analysis,cervical and thoracic MRI and serum enzymes.Results Linkage analysis mapped the AD-HSP locus to chromosome 2p12(SPG31)in this family.Positive LOD scores were obtained for SPG31 markers on chromosome 2 with a maximum multipoint LOD score of Z=1.8.Analysis of the REEP1 gene revealed a heterozygous G-to-A mutation at nucleotide position c417+1 donor site in exon 5.resulting in splice-site mutation.The symptoms of the patients manifested as stiffness,instability or weakness of the legs.MRI of the thoracic revealed atrophies of the spinal cord in the proband's son.Conclusions SPC31 patients have the clinical features of the typical HSP characteristics.REEP1 gene is the pathogenic gene.with REEP1 c417+1G＞A heterozygous mutation.
Key words:
Spastic paraplegia,hereditary; Pedigree; Membrane transport proteins; Heterozygote; Mutation
By using selective culture media, the phosphobacteria in Cerasus sachalinensis rhizosphere and nonrhizosphere were isolated and identified, with their community structure and dynamics studied. The phosphobacteria isolated from three test substrates belonged to 13 genera, and Bacillus, Pseudomonas and Serratia were the main ones. The substrate added with slag was most suitable for the growth of phosphobacteria, on which, phosphobacteria had the highest population number but the lowest diversity index. There was a difference in the population number of phosphobacteria in rhizosphere and nonrhizosphere during the growth period of C. sachalinensis. In rhizosphere, phosphobacteria had the highest number (6 genera) in withhold-growing period of shoot, less in fast growing period of shoot and in defoliation period, and the least in germination period. The diversity index of phosphobacteria in rhizosphere also varied with the growth period of C. sachalinensis, which was in the order of fast growing period of shoot > defoliation period > withhold-growing period of shoot. In nonrhizosphere, the population number and diversity index of phosphobacteria had a decreasing trend with the growth of C. sachalinensis. All of these indicated that there was an obvious rhizosphere effect on phosphobacteria.
// De-guo Lu 1 , Ying-mei Ma 2 , Ai-ju Zhu 3 and Yun-wei Han 4 1 Clinical Laboratory, Linyi People's Hospital, Linyi, Shandong, P.R. China 2 Clinical Laboratory, Linyi Chest Hospital, Linyi, Shandong, P.R. China 3 Department of ophtalmology, Linyi People's Hospital, Linyi, Shandong, P.R. China 4 Department of Oncology, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, P. R. China Correspondence to: Yun-wei Han, email: // Keywords : RUNX3, methylation, odds ratio, prognosis, drug target Received : September 01, 2016 Accepted : October 12, 2016 Published : November 04, 2016 Abstract Runt-related transcription factor 3 ( RUNX3 ) methylation plays an important role in the carcinogenesis of breast cancer (BC). However, the association between RUNX3 hypermethylation and significance of BC remains under investigation. The purpose of this study is to perform a meta-analysis and literature review to evaluate the clinicopathological significance of RUNX3 hypermethylation in BC. A comprehensive literature search was performed in Medline, Web of Science, EMBASE, Cochrane Library Database, CNKI and Google scholar. A total of 10 studies and 747 patients were included for the meta-analysis. Pooled odds ratios (ORs) with corresponding confidence intervals (CIs) were evaluated and summarized respectively. RUNX3 hypermethylation was significantly correlated with the risk of ductal carcinoma in situ (DCIS) and invasive ductal carcinoma (IDC), OR was 50.37, p < 0.00001 and 22.66, p < 0.00001 respectively. Interestingly, the frequency of RUNX3 hypermethylation increased in estrogen receptor (ER) positive BC, OR was 12.12, p = 0.005. High RUNX3 mRNA expression was strongly associated with better relapse-free survival (RFS) in BC patients. In summary, RUNX3 methylation could be a promising early biomarker for the diagnosis of BC. High RUNX3 mRNA expression is correlated to better RFS in BC patients. RUNX3 could be a potential therapeutic target for the development of personalized therapy.
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