Utility of enteral nutrition via percutaneous transhepatic cholangiography drainage catheterization in late-stage malignant obstructive jaundice.

Objective: The purpose of this study was to explore the clinical benefits of establishing an enteral nutrition (EN) pathway via percutaneous transhepatic cholangiography drainage (PTCD) catheterization in patients with late-stage malignant obstructive jaundice (MOJ).Methods: We selected 30 patients diagnosed as having late-stage MOJ with malnutrition. A dual-lumen biliary-enteral nutrition tube was placed via PTCD along with a biliary stent implantation. Postoperative EN was provided, and we observed the time taken for tube placement, its success rate, complications, and therapeutic efficacy.Results: Tube placement was successful in all 30 patients with an average procedural time of 5.7 ± 1.4 min with no tube placement complications. Compared to preoperative measures, there was a significant improvement in postoperative jaundice reduction and nutritional indicators one month after the procedure (p < 0.05). Post-placement complications included tube perileakage in 5 cases, entero-biliary reflux in 4 cases, tube blockage in 6 cases, tube displacement in 4 cases, accidental tube removal in 3 cases, and tube replacement due to degradation in 8 cases, with tube retention time ranging from 42 to 314 days, averaging 124.7 ± 37.5 days. All patients achieved the parameters for effective home-based enteral nutrition with a noticeable improvement in their quality of life.Conclusion: In this study, we found that the technique of establishing an EN pathway via PTCD catheterization was minimally invasive, safe, and effective; the tube was easy to maintain; and patient compliance was high. It is, thus, suitable for long-term tube retention in patients with late-stage MOJ.

Small-diameter PCL/PU vascular graft modified with heparin-aspirin compound for preventing the occurrence of acute thrombosis.

The occurrence of acute thrombosis, directly related to platelet aggregation and coagulant system, is a considerable reason for the failure of small-diameter vascular grafts. Heparin is commonly used as a functional molecule for graft modification due to the strong anticoagulant effect. Unfortunately, heparin cannot directly resist the adhesion and aggregation of platelets. Therefore, we have prepared a heparin-aspirin compound by coupling heparin with aspirin, an antiplatelet drug, and covalently grafted it onto the surface of polycaprolactone/polyurethane composite tube. In this way, the graft not only showed a dual function of both anticoagulation and antiplatelet, but also effectively avoided the rapid drug release and excessive toxicity to other organs caused by simple blending the medicine with material matrix. The compound retained the original function of heparin, showing good hydrophilicity and biocompatibility, which could promote the adhesion and proliferation of endothelial cells (ECs) and facilitate the process of tissue regeneration. What's more, the compound showed more effective than heparin in reducing platelet activation and preventing thrombosis. The graft modified by this compound maintained completely unobstructed for one month of implantation, while severe obstruction or stenosis occurred in PCL/PU and PCL/PU-Hep lumen at the first week, verifying the effect of the compound on preventing acute thrombosis. In general, this study proposed a designing method for small-diameter vascular graft which could prevent acute thrombosis and promote intimal construction.

[Manual annotation of the pig whole genomic sequence using Otterlace software].

In November 2009, scientists from the US, UK, and other countries announced the complete genome sequence draft of the domestic pig. With the release of improved versions of the pig genome assembly and the increase of correctly assembled sequenced fragments over the past two years, it is particularly urgent to have the pig genes annotated at whole-genome level. This article is aimed at introducing an excellent manual annotation tool, Otterlace software, developed by Sanger institute. We used CFL1 (Cofilin 1) gene as an example to expound the usage of the three main components of Otterlace, Zmap, Blixem, and Dotter tools, and developed a practical procedure for manual annotations. We have analyzed 243 immune-related genes, among which 180 genes have been completely or partially annotated, offering novel information to the porcine functional genomics.

Roles of Interleukin-6-mediated immunometabolic reprogramming in COVID-19 and other viral infection-associated diseases.

Interleukin-6 (IL-6) is a highly pleiotropic glycoprotein factor that can modulate innate and adaptive immunity as well as various aspects of metabolism, including glycolysis, fatty acid oxidation and oxidative phosphorylation. Recently, the expression and release of IL-6 is shown to be significantly increased in numerous diseases related to virus infection, and this increase is positively correlated with the disease severity. Immunity and metabolism are two highly integrated and interdependent systems, the balance between them plays a pivotal role in maintaining body homeostasis. IL-6-elicited inflammatory response is found to be closely associated with metabolic disorder in patients with viral infection. This brief review summarizes the regulatory role of IL-6 in immunometabolic reprogramming among seven viral infection-associated diseases.

Correlation of SARS­CoV­2 to cancer: Carcinogenic or anticancer? (Review).

Severe acute respiratory syndrome coronavirus 2 (SARS­CoV­2) is highly infectious and pathogenic. Among patients with severe SARS­CoV­2­caused by corona virus disease 2019 (COVID­19), those complicated with malignant tumor are vulnerable to COVID­19 due to compromised immune function caused by tumor depletion, malnutrition and anti­tumor treatment. Cancer is closely related to the risk of severe illness and mortality in patients with COVID­19. SARS­CoV­2 could promote tumor progression and stimulate metabolism switching in tumor cells to initiate tumor metabolic modes with higher productivity efficiency, such as glycolysis, for facilitating the massive replication of SARS­CoV­2. However, it has been shown that infection with SARS­CoV­2 leads to a delay in tumor progression of patients with natural killer cell (NK cell) lymphoma and Hodgkin's lymphoma, while SARS­CoV­2 elicited anti­tumor immune response may exert a potential oncolytic role in lymphoma patients. The present review briefly summarized potential carcinogenicity and oncolytic characteristics of SARS­CoV­2 as well as strategies to protect patients with cancer during the COVID­19 pandemic.

Effects of the Separator MOF-Al2O3 Coating on Battery Rate Performance and Solid-Electrolyte Interphase Formation.

Metal organic frameworks (MOFs) have unique advantages in optimizing the ionic conductivity of battery separators because of their rich cavity structure and highly ordered and connected pores. In this study, we used a hydrothermal method to synthesize a functional material, Ag-MOF crystal, as a separator coating content, and then studied the properties and application effect of the MOF-Al2O3-blended coating applying to a polyethylene (PE) separator (MOFxAl1-x/PE). Results show that MOF0.08Al0.92/PE (MOF/Al2O3 = 0.08:0.92) used in NCM811||Li cells significantly not only improves the fast charge-discharge performance of the cells but also inhibits the growth of lithium dendrites during long-term charge-discharge cycling; the Li+ transference number (tLi+) of the MOF0.08Al0.92/PE composite separator is 0.61; the Li||separator||Li half-cell circulates stably for 1000 h at varying current density from 0.5 to 10 mA cm-2 and only produces low overpotentials, indicating that MOF0.08Al0.92 stabilizes lithium. The initial capacity of the NCM811||Li cell using the MOF0.08Al0.92/PE separator is 165.0 mA h g-1, its capacity retention is 70.67% after 300 cycles at 5 C, and the interface resistance of the cells only increases from 13.8 to 31.5 Ω, whereas the capacity retention of Al2O3/PE separator batteries is only 40.41% (62.2 mA h g-1) under the same conditions. During the charge-discharge cycling, the MOF-Al2O3 coating induces the lithium anode to quickly form a stable and dense solid-electrolyte interphase layer, promotes the uniform deposition of Li+, and inhibits the growth of lithium dendrites as well.

Mass spectrometry imaging identifies altered hepatic lipid signatures during experimental Leishmania donovani infection.

Introduction: Spatial analysis of lipids in inflammatory microenvironments is key to understand the pathogenesis of infectious disease. Granulomatous inflammation is a hallmark of leishmaniasis and changes in host and parasite lipid metabolism have been observed at the bulk tissue level in various infection models. Here, mass spectrometry imaging (MSI) is applied to spatially map hepatic lipid composition following infection with Leishmania donovani, an experimental mouse model of visceral leishmaniasis. Methods: Livers from naïve and L. donovani-infected C57BL/6 mice were harvested at 14- and 20-days post-infection (n=5 per time point). 12 µm transverse sections were cut and covered with norhamane, prior to lipid analysis using MALDI-MSI. MALDI-MSI was performed in negative mode on a Rapiflex (Bruker Daltonics) at 5 and 50 µm spatial resolution and data-dependent analysis (DDA) on an Orbitrap-Elite (Thermo-Scientific) at 50 µm spatial resolution for structural identification analysis of lipids. Results: Aberrant lipid abundances were observed in a heterogeneous distribution across infected mouse livers compared to naïve mouse liver. Distinctive localized correlated lipid masses were found in granulomas and surrounding parenchymal tissue. Structural identification revealed 40 different lipids common to naïve and d14/d20 infected mouse livers, whereas 15 identified lipids were only detected in infected mouse livers. For pathology-guided MSI imaging, we deduced lipids from manually annotated granulomatous and parenchyma regions of interests (ROIs), identifying 34 lipids that showed significantly different intensities between parenchyma and granulomas across all infected livers. Discussion: Our results identify specific lipids that spatially correlate to the major histopathological feature of Leishmania donovani infection in the liver, viz. hepatic granulomas. In addition, we identified a three-fold increase in the number of unique phosphatidylglycerols (PGs) in infected liver tissue and provide direct evidence that arachidonic acid-containing phospholipids are localized with hepatic granulomas. These phospholipids may serve as important precursors for downstream oxylipin generation with consequences for the regulation of the inflammatory cascade. This study provides the first description of the use of MSI to define spatial-temporal lipid changes at local sites of infection induced by Leishmania donovani in mice.

Inhibition of miR-214 expression represses proliferation and differentiation of C2C12 myoblasts.

MicroRNAs (miRNAs) are small non-coding RNAs that participate in diverse biological processes including skeletal muscle development. MiR-214 is an miRNA that is differentially expressed in porcine embryonic muscle and adult skeletal muscle, suggesting that miR-214 may be related to embryonic myogenesis. In this study, the myoblast cell line C2C12 was used for functional analysis of miR-214 in vitro. The results showed that miR-214 was expressed both in myoblasts and in myotubes and was upregulated during differentiation. After treatment with an miR-214 inhibitor and culturing in differentiation medium, myoblast differentiation was repressed, as indicated by the significant downregulation of expression of the myogenic markers myogenin and myosin heavy chain (MyHC). Interestingly, myoblast proliferation was also repressed when cells were transfected with an miR-214 inhibitor and cultured in growth medium by real-time proliferation assay and cell cycle analysis. Our results showed that miR-214 regulates both proliferation and differentiation of myoblasts depending on the conditions.

A biomimetic orthogonal-bilayer tubular scaffold for the co-culture of endothelial cells and smooth muscle cells.

In blood vessels, endothelial cells (ECs) grow along the direction of blood flow, while smooth muscle cells (SMCs) grow circumferentially along the vessel wall. To mimic this structure, a polycaprolactone (PCL) tubular scaffold with orthogonally oriented bilayer nanofibers was prepared via electrospinning and winding. ECs were cultured on the inner layer of the scaffold with axial nanofibers and SMCs were cultured on the outer layer of the scaffold with circumferential nanofibers. Fluorescence images of the F-actin distribution of ECs and SMCs indicated that cells adhered, stretched, and proliferated in an oriented manner on the scaffold. Moreover, layers of ECs and SMCs formed on the scaffold after one month of incubation. The expression levels of platelet-endothelial cell adhesion molecule 1 (PECAM-1) and a contractile SMC phenotype marker in the EC/SMC co-culture system were much higher than those in individual culture systems, thus demonstrating that the proposed biomimetic scaffold promoted the intercellular junction of ECs and preserved the contractile phenotype of SMCs.

Colorimetric Immunosensor Based on Au@g-C3N4-Doped Spongelike 3D Network Cellulose Hydrogels for Detecting α-Fetoprotein.

A colorimetric immunoassay is a powerful tool for detecting tumor markers, with outstanding advantages of visualization and convenience. This study designed a colorimetric immunoassay using the antibody/antigen to control the catalytic activity to be "switched on/off". This system, where Au NPs (18.5 ± 3.9 nm) were loaded on the g-C3N4 nanosheets that were fixed in a three-dimensional porous cellulose hydrogel, was used as a binding site for the antibody/antigen. After being incubated with an antibody of a cancer marker, the turned-off catalytic sites on Au NPs in Au@g-C3N4/microcrystalline cellulose hydrogels would not be "turned on" until the corresponding antigen was added. The number of the recovered Au active sites was related to the amount of the antigen added. The Fourier transform infrared and X-ray photoelectron spectroscopy measurements did not detect the existence of Au-S bonds. Catalyzed by the turned-on Au NPs, 4-nitrophenol was reduced to 4-aminophenol accompanied by a color fading. The color and the absorption spectrum changes in the process were used as the colorimetric quantitative basis for immunoassays. The colorimetric immunoassay showed a linear relationship with the liver cancer marker (α-fetoprotein, AFP) in the range of 0.1-10 000 ng/mL with the detection limit of 0.46 ng/mL. In addition, 4-nitrophenol had a significant color fading when the AFP concentration exceeded the healthy human threshold. The clinical patient's serum test results obtained from the developed colorimetric immunosensor were consistent with those obtained from the commercial enzyme-linked immunosorbent assay. Furthermore, the immunosensor exhibited a good selectivity, repeatability, and stability, which demonstrated its potential for practical diagnostic application.

Asymmetrically coated LAGP/PP/PVDF-HFP composite separator film and its effect on the improvement of NCM battery performance.

Li1.5Al0.5Ge1.5(PO4)3 (LAGP) is an inorganic solid electrolyte with a Na superionic conductor (NASICON) structure that provides a channel for lithium ion transport. We coated LAGP particles on one side of a polypropylene (PP) separator film to improve the ionic conductivity of the separator, and water-dispersed polyvinylidene fluoride-hexafluoropropylene (PVDF-HFP) on the other side to reduce the interfacial resistance between the separator and the lithium metal anode. The results show that the LAGP/PP/PVDF-HFP separator has a high ionic conductivity (1.06 mS cm-1) at room temperature (PP separator: 0.70 mS cm-1), and an electrochemical window of 5.2 V (vs. Li+/Li). The capacity retention of a NCM|LAGP/PP/PVDF-HFP|graphite full cell is 81.0% after 300 charge-discharge cycles at 0.2C. When used in a NCM|LAGP/PP/PVDF-HFP|Li half-cell system, the initial discharge capacity is 172.5 mA h g-1 at 0.2C, and the capacity retention is 83.2% after 300 cycles. More significantly, the surface of the Li anode is smooth and flat after 200 cycles. The interface resistance increased from 7 to 109 Ω after 100 cycles at 0.2C. This indicates that the synergistic effect of the asymmetric coated LAGP and PVDF-HFP is beneficial to inhibiting the growth of lithium dendrites in the battery and reduces the interface resistance.

[Spatial Variability in Soil Respiration Under Different Land Use Patterns in Maocun Village, Guilin].

To investigate the factors influencing the spatial variability in soil respiration among different land use patterns in a karst non-karst interactive distribution area, field experiments were conducted in Maocun Village, Guilin. Soil respiration, δ13C-CO2 value, and relevant environment, vegetation, and soil factors were measured. The spatial variability in soil respiration and the relationship between soil respiration and these measured factors were examined. The results indicated that soil respiration rates ranged from 1.39 µmol·(m2·s)-1 to 5.31 µmol·(m2·s)-1, with the highest value being approximately 3.8 times the minimum. Soil respiration varied significantly among different land use patterns under different lithology zones. The soil respiration rate of the G2 pines in the same lithology area was 2.3 times higher than that in the orchard G1 point after the destruction of the forest. The soil respiration caused an increase in CO2 concentration in the atmosphere and a decrease in the δ13C-CO2 value; the relationship between the two could be described by an inverse proportional function. The study found that in mid-April, the average water heat condition was close to that of the entire year. The difference in soil organic carbon content caused by land use was a driving factor of the spatial variability in soil respiration. In all ecosystems studied, the relationship between soil respiration and soil organic carbon content and total nitrogen content could be described by a two-element linear regression equation and explained 92.8% of the spatial variability in soil respiration.

Activity-based probe for specific photoaffinity labeling gamma-aminobutyric acid B (GABAB) receptors on living cells: design, synthesis, and biological evaluation.

A trimodular activity-based probe was designed, synthesized, characterized, and applied to photoaffinity label the GABA(B) receptors transiently expressed in Chinese hamster ovary (CHO) cells. The probe exhibits specific binding activity at the ligand-binding pocket of GB1 subunits and high specificity of photoaffinity labeling, which makes the probe valuable for studying the localization and function of GABA(B) receptors on living cells.

[Heavy Metal Pollution of the Drinking Water Sources in the Liujiang River Basin, and Related Health Risk Assessments].

The characteristics of heavy metal pollution in drinking water in the Liujiang river basin and its potential hazards on human health were investigated. In this study, the regular water-quality indices and the contents of metal elements Cd, As, Cr, Hg, Zn, Cu, Pb, Fe, and Mn in the Liujiang river and its main tributaries were detected from January to December of 2016. The health risks of drinking contaminated water were evaluated by the health risk assessment model recommended by the US EPA. The results showed that the concentrations of all of the aforementioned metal elements, except Hg, did not exceed the limits recommended by China's surface water environmental quality standard (GB 3838-2002). Pearson correlation analysis of the concentrations of metal elements indicated that Cd, Pb, As, and Fe may have similar sources, and Cu, Cr, Hg, and Zn may have source of diversity, while there was no significant correlation between the concentrations of metal elements and the pH value. The carcinogenic health risks posed by heavy metal elements in the Liujiang river basin in adults and children were 4.52E-04 a-1 and 5.91E-04 a-1, respectively, while the non-carcinogenic health risks were 8.96E-09 a-1 and 1.14E-08 a-1, respectively. The heavy metal elements in drinking water, on the basis of their average carcinogenic health risks, were ranked as Cr > As > Cd, and the risk levels ranged from 3.58E-06 to 1.21E-04 a-1; the risk values of Cr and As were higher than the maximum allowance levels recommended by ICRP (5.0×10-5 a-1). Simultaneously, the risk levels of the average non-carcinogenic health risks ranged from 3.53E-12 to 2.87E-09 a-1, and the range was lower than the maximum allowance levels recommended by EPA. Carcinogens, especially Cr and As, are the main causes of health risks in the aquatic environment of the Liujiang river basin, and should be prioritized as the main objects of aquatic environmental risk management in the Liujiang river basin.

Association between single nucleotide polymorphisms in MiR219-1 and MiR137 and susceptibility to schizophrenia in a Chinese population.

Schizophrenia is one of the most common mental disorders to severely affect human health worldwide. Single nucleotide polymorphisms (SNPs) within related genes are candidate susceptible factors for the disorder. Rs107822 within MiR219-1 and rs1625579 within MiR137 were genotyped in 589 cases and 622 controls to investigate the possible association between the loci and schizophrenia in a Chinese population. Our results showed significant association between rs107822 and the disorder in allele (C vs. T: adjusted OR = 0.773, 95%CI = 0.655-0.912), co-dominant (TC vs. TT: adjusted OR = 0.734, 95%CI = 0.571-0.943; CC vs. TT: adjusted OR = 0.655, 95%CI = 0.459-0.936), dominant (TC + CC vs. TT: adjusted OR = 0.707, 95%CI = 0.559-0.895), and recessive (CC vs. TC + TT: adjusted OR = 0.724, 95%CI = 0.524-0.999) models, respectively. Meanwhile, negative associations were also observed between rs107822 and the disorder in male and female subgroups, and genotype CC of the locus was significantly associated with a lower positive symptom score of PANSS compared to genotype TT carrier in the cases group. However, we didn't observe a significant association between rs1625579 and the disorder. These findings indicate that rs107822 within MiR219-1 might be involved in pathogenesis of schizophrenia and that genotypes TC, CC and allele C of the locus are protective factors for schizophrenia in a Chinese population.

[Expression of the skeletal muscle Tx-TnT during the different developmental stages between avian broiler and Hongshan chicken].

Tropnin T (TnT) is the troponin complex subunit that most strongly binds to tropomyosin (Tm). Various TnT isoforms through alternative mRNA splicing are specifically expressed during development and/or in different muscle types, indicating that these forms have specialized functions in muscle contraction. The Tx structure has been identified in TnT isoforms specifically expressed in the breast of Galliformes and Craciformes. In the present study, monoclonal antibody 6B8 that recognizes Tx epitope was used to detect the expression of Tx-TnT isoforms during the different developmental stages of breast and leg muscles between Hongshan chicken and Avian broiler. The results confirmed that the Tx epitope is only present in the breast but not leg muscles of both chickens. The least square analysis showed the quantum of Tx-TnT expressed in the breast muscles increased during development and had significant difference (P < 0.05) between Hongshan chicken and Avian broiler. The correlations between the expression quantum of Tx-TnT and the breast muscle weight were 0.91236 for Hongshan chicken and 0.87624 for Avian broiler, respectively, and significant at 0.05 level.

[Characterization of novel alleles and new mutation sites of porcine MHC class II DQA].

The primers, DQAp161 and DQAp443, were designed based on the homologous region of SLA-DQA cDNA sequences and HLA-DQA genomic sequences. The 731 bp fragment of SLA-DQA including completed intron 2, the near completed exon 2 and partial exon 3 was obtained by PCR. The nucleotide sequences of the fragment of SLA-DQA were obtained with cloning and direct sequencing. Both nucleotide sequences of exon 2 and amino acid sequences of alpha 1 domain were analyzed in a pedigree. The sequence data were compared with all sequences of SLA-DQA exon 2 in GenBank. Two novel alleles, DQA-SLT 26 and DQA-TC 21-1, were found according to the above analyses. Four amino acid changes were observed among SLA-DQA haplotype c, d and DQA-SLT 26. They were Val-->Ala(60), Lys-->Glu(65), Asp-->Gly(81) and Lys-->Ile(93). Comparing the amino acids sequence of the all SLA-DQA sequences with DQA-TC 21-1 revealed that the His (94) was changed into Tyr.

[Kriging analysis of vegetation index depression in peak cluster karst area].

In order to master the spatial variability of the normal different vegetation index (NDVI) of the peak cluster karst area, taking into account the problem of the mountain shadow "missing" information of remote sensing images existing in the karst area, NDVI of the non-shaded area were extracted in Guohua Ecological Experimental Area, in Pingguo County, Guangxi applying image processing software, ENVI. The spatial variability of NDVI was analyzed applying geostatistical method, and the NDVI of the mountain shadow areas was predicted and validated. The results indicated that the NDVI of the study area showed strong spatial variability and spatial autocorrelation resulting from the impact of intrinsic factors, and the range was 300 m. The spatial distribution maps of the NDVI interpolated by Kriging interpolation method showed that the mean of NDVI was 0.196, apparently strip and block. The higher NDVI values distributed in the area where the slope was greater than 25 degrees of the peak cluster area, while the lower values distributed in the area such as foot of the peak cluster and depression, where slope was less than 25 degrees. Kriging method validation results show that interpolation has a very high prediction accuracy and could predict the NDVI of the shadow area, which provides a new idea and method for monitoring and evaluation of the karst rocky desertification.

Discovery of porcine microRNAs in multiple tissues by a Solexa deep sequencing approach.

The domestic pig (Sus scrofa) is an important economic animal for meat production and as a suitable model organism for comparative genomics and biomedical studies. In an effort to gain further identification of miRNAs in the pig, we have applied the Illumina Solexa sequencing technology to carry out an in-depth analysis of the miRNA transcriptome in a pool of equal amounts of RNA from 16 different porcine tissues. From this data set, we identified 437 conserved and 86 candidate novel miRNA/miRNA* in the pig, corresponding to 329 miRNA genes. Compared with all the reported porcine miRNAs, the result showed that 112 conserved and 61 candidate novel porcine miRNA were first reported in this study. Further analysis revealed extensive sequence variations (isomiRs) of porcine miRNAs, including terminal isomiRs at both the 5' and 3' ends and nucleotide variants. Read counts of individual porcine miRNA spanned from a few reads to approximately 405541 reads, confirming the different level of expression of porcine miRNAs. Subsequently, the tissue expression patterns of 8 miRNAs were characterized by Northern blotting. The results showed that miR-145, miR-423-5p, miR-320, miR-26a, and miR-191 are ubiquitously expressed in diverse tissues, while miR-92, miR-200a, and miR-375 were selectively enriched and expressed in special tissues. Meanwhile, the expression of 8 novel porcine-specific miRNAs was validated by stem-loop RT-PCR, and one of these was detected by Northern blotting. Using the porcine miRNA array designed according to our Solexa results, 123 miRNAs were detected expression in porcine liver tissues. A total of 58 miRNAs showed differential expression between the Tongcheng (a Chinese indigenous fatty breed) and Large White pig breeds (a lean type pig). Taken together, our results add new information to existing data on porcine miRNAs and should be useful for investigating the biological functions of miRNAs in pig and other species.

[Single nucleotide polymorphisms of ß-globin gene in ß-thalassaemia patients].

This study was aimed to analyze the ß-globin gene sequence and single nucleotide polymorphisms of the ß-globin gene in ß-thalassaemia patients from Shenzhen area, and to explore linkage relationships between ß-globin gene mutations and single nucleotide polymorphisms. Genomic DNA was extracted from peripheral leukocytes in 125 ß-thalassaemia patients from Shenzhen population. ß-globin gene was amplified by polymerase chain reaction, mutations and single nucleotide polymorphisms in the ß-globin gene were determined by DNA sequencing. The results indicated 10 types of mutation and 12 single nucleotide polymorphism loci were found in the ß-globin gene of 114 ß-thalassaemia patients. Linkage disequilibrium between mutations and single nucleotide polymorphisms was found in 6 loci including 6 haplotypes among these single nucleotide polymorphism loci in the ß-globin gene. It is concluded that a number of single nucleotide polymorphisms is found in the ß-globin gene, where an average of one single nucleotide polymorphism every 230 bp there is. Linkage disequilibrium occurs between ß-thalassaemia mutations and some haplotypes in single nucleotide polymorphism loci. This study may be helpful to gene diagnosis for ß-thalassaemia patients.