1.Association of combined cold and hypoxia exposure with pulmonary heart disease hospitalization risk and experimental pulmonary hypertension in rats
Huan CHEN ; Ya XIAO ; Huanhuan WEI ; Li HE ; Ce LIU ; Jiangtao LIU ; Hao ZHAO ; Zhaoru YANG ; Bin LUO
Journal of Environmental and Occupational Medicine 2026;43(9):1049-1058
Background Pulmonary heart disease (PHD) is a critical cardiopulmonary disease in high-altitude areas, with pulmonary hypertension (PH) as its central pathological basis. Cold and hypoxia are vital environmental characteristics of high-altitude regions; however, their joint effect on the hospitalization risk for PHD and the underlying biological mechanisms remain unclear. Objective To evaluate the associations of cold, hypoxia, and their joint exposure with PHD hospitalization risk, and to investigate PH-related pathological changes induced by combined cold and hypoxic exposure and the intervention effects of γ-aminobutyric acid (GABA) in rats. Methods Based on hospitalization data for 92986 PHD cases from 333 hospitals in Gansu Province (2018–2022), a generalized additive model (GAM) with a quasi-Poisson distribution was used to assess the associations between daily mean temperature, atmospheric oxygen content (AOC) and the daily number of PHD hospitalizations. Four joint exposure categories were constructed using the fifth percentile of temperature (P5, −7.90℃) and AOC grades (high or low) to assess the associations between different exposure combinations and daily PHD hospital admissions. To further investigate PH-related pathological changes and the intervention effects of GABA, 24 specific-pathogen-free male Sprague–Dawley rats were randomly assigned to four groups (n=6): normal temperature and normoxia control group (NC), combined cold and hypoxia exposure group (CH), combined exposure plus low-dose GABA intervention group (CHL), and combined exposure plus high-dose GABA intervention group (CHH). After 5 weeks, pulmonary hemodynamics and vascular remodeling were evaluated. Gut microbiota and inflammatory cytokines in lung tissue were assessed using 16S rRNA sequencing and enzyme-linked immunosorbent assay (ELISA), respectively. Results Each 1 g·m−3 decrease in AOC and each 1 ℃ decrease in daily mean temperature were associated with 2.6% (RR=1.026, 95%CI: 1.024, 1.027) and 1.8% (RR=1.018, 95%CI: 1.015, 1.020) increases in PHD hospitalization risk, respectively. Compared with the non-low-temperature and high-AOC group, the low-temperature and low-AOC group had the highest risk estimate (RR=1.673, 95%CI: 1.567, 1.785). Animal experiments demonstrated that, compared with the NC group, rats in the CH group showed shortened pulmonary artery acceleration time (PAT) and increased mean pulmonary artery pressure (MPAP), right ventricular hypertrophy index (RVHI), pulmonary arterial wall thickness, and α-smooth muscle actin (α-SMA) expression (P<0.05). The Observed Species and Chao1 indices of the gut microbiota were significantly lower in the CH group than in the NC group (P<0.05), while levels of tumor necrosis factor-alpha (TNF-α) and interleukin-1beta (IL-1β) in lung tissue were elevated (P<0.05). GABA intervention improved selected hemodynamic, vascular remodeling, and inflammatory indices. Conclusion Decreases in daily mean temperature and AOC are associated with an increased risk of PHD hospitalization, with the highest risk estimate observed in the low-temperature and low-AOC group. Animal experiments suggest that combined cold and hypoxic exposure induce PH-related pathological changes accompanied by alterations in the gut microbiota and pulmonary inflammation. GABA may partially ameliorate these changes.
2.The cutting-edge progress of novel biomedicines in ovulatory dysfunction therapy.
Xuzhi LIANG ; Shiyu ZHANG ; Dahai LI ; Hao LIANG ; Yueping YAO ; Xiuhong XIA ; Hang YU ; Mingyang JIANG ; Ying YANG ; Ming GAO ; Lin LIAO ; Jiangtao FAN
Acta Pharmaceutica Sinica B 2025;15(10):5145-5166
Ovulatory dysfunction (OD) is one of the main causes of infertility in women of childbearing age, which not only affects their reproductive ability, but also physical and mental health. Traditional treatment strategies have limited efficacies, and the emergence of biomedicines provides a promising alternative solution via the strategies of combining engineered design with modern advanced technology. This review explores the pathophysiological characteristics and related induction mechanisms of OD, and evaluates the current cutting-edge advances in its treatments. It emphasizes the potentials of biomedicines strategies such as hydrogels, nanoparticles and extracellular vesicles in improving therapeutic precision and efficacy. By mimicking natural physiological processes, and achieving controlled drug release, these advanced drug carriers are expected to address the challenges in ovarian microenvironment reprogramming, tissue repair, and metabolic and immune regulation. Despite the promising progress, there are still challenges in terms of biomedical complexity, differences between animal models and human physiology, and the demand for intelligent drug carriers in the therapy of OD. Future researches are mainly dedicated to developing precise personalized biomedicines in OD therapy through interdisciplinary collaboration, promoting the development of reproductive regenerative medicine.
3.Soil conditioners affect rhizospheric bacterial communities of Cabernet Sauvignon.
Shuaicheng AN ; Jiangtao BI ; Gong LI ; Ruifan MAO ; Peng LIU ; Zhibing HUI ; Xiaoqin SU
Chinese Journal of Biotechnology 2025;41(6):2432-2450
Three soil conditioners were prepared from granulated food waste and decomposed cattle manure combined with desulfurization gypsum, coal gangue, and maifanite, respectively. Field trials were conducted in the saline field growing Cabernet Sauvignon. The effects of soil conditioners on rhizospheric bacterial communities were studied, with the aim of providing a scientific basis for soil amelioration and restoration. Five treatments were designed, including the control (T1), conventional fertilization (T2), reduced chemical fertilization+organic matter-based soil conditioner with calcium additives (T3), reduced chemical fertilization+organic matter-based soil conditioner with silica additives (T4), and reduced chemical fertilization+organic matter-based soil conditioner with magnesium additives (T5), each with three replications. The results indicated that soil conditioners improved the rhizospheric nutrients, yield, and quality of grape (P<0.05), increased relative abundance of Proteobacteria by 17.32%-23.37%, decreased relative abundance of unidentified_Bacteria and Acidobacteriota by 4.22%-28.42% and 20.88%-35.81%, respectively. The bacterial community composition and diversity were different between treatments. Function analysis showed that the expression levels of the genes involved in chromosome and protein synthesis, mRNA biosynthesis, and glyoxylate and dicarboxylate metabolism were up-regulated in the treatments with soil conditioners. The correlation analysis revealed that multiple environmental factors affected the alpha diversity of rhizospheric bacterial communities, and some bacterial taxa were closely related to the grape yield and quality. It is concluded that soil conditioners can effectively alter rhizosphere nutrient levels and bacterial community structures and functions. T5 treatment outperforms other treatments in improving the physico-chemical and biological characteristics of rhizosphere, and the yield, and quality of grape. It has potential for application, and provides an important basis for development of new-type soil conditioners.
Soil Microbiology
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Rhizosphere
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Soil/chemistry*
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Vitis/microbiology*
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Fertilizers
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Bacteria/growth & development*
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Cattle
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Manure
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Animals
4.Research progress on antimicrobial peptides against methicillin-resistant Staphylococcus aureus
Yuxuan WANG ; Weichang GUO ; Cheng CHEN ; Yao LUO ; Yaxiong XIAO ; Jiangtao LI
China Pharmacy 2025;36(5):636-640
Staphylococcus aureus is a Gram-positive bacterium with strong pathogenicity. With the widespread use of antibiotics, its multi-drug resistance has gradually increased. Among them, methicillin-resistant S. aureus (MRSA) is one of the main pathogens of hospital and community infections. Antimicrobial peptides are short-chain peptides with good antibacterial effects and low drug resistance, which have been widely studied in recent years. This study summarizes the mechanism of action of antimicrobial peptides and related study on antimicrobial peptides against MRSA from different sources. It is found that the mechanisms of action of antimicrobial peptides include targeting bacterial cell membranes, bacterial cells, and bacterial cell walls, etc. Besides isolating antimicrobial peptides with anti-MRSA activity from animals, plants, and microorganisms, antimicrobial peptides can also be obtained through synthetic methods. Among them, GHa-derived peptides from animal sources, Ib-AMP4 from plant sources, Ph-SA from microbial sources, the synthetic peptide LLKLLLKLL-NH2, and so on, due to their effective antibacterial activity, rapid bactericidal speed, and low toxicity, are promising candidates for anti-MRSA drugs.
5.Randomized Controlled Trail of Ganlu Qingwen Prescription for Treatment of Community-acquired Pneumonia
Xiangpeng LI ; Fengsen LI ; Ling WANG ; Zheng LI ; Dan XU ; Jiangtao LI
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(11):225-236
ObjectiveTo explore the regulatory effect of Ganluqingwen prescription on inflammation and immunity by observing the clinical efficacy of Ganluqingwen prescription in the treatment of community-acquired pneumonia (CAP), so as to provide a clinical basis for the treatment of CAP by traditional Chinese medicine (TCM). MethodsA randomized controlled trial was conducted by selecting patients who were diagnosed with CAP and identified as wind-heat attacking lungs in Xinjiang Uygur Autonomous Region Hospital of TCM from January 2024 to May 2024 and assigning the patients to a control group (treated by western medicine treatment) or an experimental group (treated by Ganluqingwen prescription combined with western medicine). The data of the enrolled patients before treatment, for three-day treatment, for seven-day treatment, and for 14-day treatment were collected, including basic information, medical history, pneumonia severity index (PSI) classification, and distribution and difference of laboratory and imaging information indexes. The peripheral blood specimens were collected from the patients. and the changes of inflammatory factors in peripheral blood were detected by using enzyme-linked immunosorbent assay (ELISA) reagent kits and flow-type multifactor microarrays to evaluate the clinical safety and efficacy of Ganluqingwen prescription in CAP. ResultsCompared with those in the groups before treatment, the total scores of TCM syndromes significantly decreased in both groups (P<0.05). Compared with those in the control group after treatment, the total scores of TCM syndromes decreased more significantly in the experimental group (P<0.05). Compared with the control group after treatment, the experimental group displayed a significantly reduced number of days of fever in patients (P<0.05). Compared with those in the groups before treatment, the leukocyte, neutrophil counts, C-reactive protein (CRP), procalcitonin (PCT), interleukin (IL)-6, alanine aminotransferase (ALT), aspartate aminotransferase (AST), creatinine (Cr), creatine kinase (CK), and creatine kinase isoenzymes (CK-MB) in both groups decreased (P<0.05) after treatment. Compared with that in the control group after treatment, the decrease of leukocyte, neutrophil counts, CRP, PCT, IL-6, ALT, AST, Cr, CK, and CK-MB was more pronounced in the experimental group (P<0.05). Compared with those in the group before treatment, the partial pressure of carbon dioxide increased in the experimental group for 3 d of treatment (P<0.05), and the standard alkali residual, actual alkali residual, standard bicarbonate concentration, and actual bicarbonate concentration increased in the experimental group for 7 d of treatment (P<0.05). Compared with that in the group before treatment, D-dimer decreased in the control group for 7 d of treatment (P<0.05). D-dimer and activated partial thromboplastin time (APTT) decreased in the experimental group for 3 d of treatment (P<0.05), and D-dimer, fibrinogen (FIB), and APTI significantly decreased in the group for 7 d of treatment (P<0.05). Compared with the group for 3 d of treatment, the experimental group for 7 d of treatment showed decreased FIB (P<0.05). Compared with those in the groups before treatment, the levels of inflammatory factors IL-4, IL-10, and IL-13 were elevated in the peripheral blood of the two groups after treatment, and the levels of B lymphocyte chemoattractant (BLC), interferon gamma-induced protein 10 (IP-10), tumor necrosis factor-alpha (TNF-α), interferon-gamma (IFN-γ), monocyte chemoattractant protein-1 (MCP-1), CRP, IL-2, IL-6, IL-8, IL-17, IL-22, and IL-23p19 were significantly reduced (P<0.01). Compared with the control group after treatment, the experimental group exhibited more significant improvement in indexes above (P<0.01). ConclusionThe group treated by Ganluqingwen prescription combined with western medicine shows more significant effects on reducing total scores of TCM syndromes, lowering the ability of leukocyte and neutrophil counts, decreasing BLC, IP-10, TNF-α, IFN-γ, MCP-1, CRP, IL-2, IL-6, IL-8, IL-17, IL-22, and IL-23p19 in the peripheral blood of the patients, and elevating levels of IL-4, IL-10, and IL-13 than the group treated by western drugs alone.
6.Randomized Controlled Trail of Ganlu Qingwen Prescription for Treatment of Community-acquired Pneumonia
Xiangpeng LI ; Fengsen LI ; Ling WANG ; Zheng LI ; Dan XU ; Jiangtao LI
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(11):225-236
ObjectiveTo explore the regulatory effect of Ganluqingwen prescription on inflammation and immunity by observing the clinical efficacy of Ganluqingwen prescription in the treatment of community-acquired pneumonia (CAP), so as to provide a clinical basis for the treatment of CAP by traditional Chinese medicine (TCM). MethodsA randomized controlled trial was conducted by selecting patients who were diagnosed with CAP and identified as wind-heat attacking lungs in Xinjiang Uygur Autonomous Region Hospital of TCM from January 2024 to May 2024 and assigning the patients to a control group (treated by western medicine treatment) or an experimental group (treated by Ganluqingwen prescription combined with western medicine). The data of the enrolled patients before treatment, for three-day treatment, for seven-day treatment, and for 14-day treatment were collected, including basic information, medical history, pneumonia severity index (PSI) classification, and distribution and difference of laboratory and imaging information indexes. The peripheral blood specimens were collected from the patients. and the changes of inflammatory factors in peripheral blood were detected by using enzyme-linked immunosorbent assay (ELISA) reagent kits and flow-type multifactor microarrays to evaluate the clinical safety and efficacy of Ganluqingwen prescription in CAP. ResultsCompared with those in the groups before treatment, the total scores of TCM syndromes significantly decreased in both groups (P<0.05). Compared with those in the control group after treatment, the total scores of TCM syndromes decreased more significantly in the experimental group (P<0.05). Compared with the control group after treatment, the experimental group displayed a significantly reduced number of days of fever in patients (P<0.05). Compared with those in the groups before treatment, the leukocyte, neutrophil counts, C-reactive protein (CRP), procalcitonin (PCT), interleukin (IL)-6, alanine aminotransferase (ALT), aspartate aminotransferase (AST), creatinine (Cr), creatine kinase (CK), and creatine kinase isoenzymes (CK-MB) in both groups decreased (P<0.05) after treatment. Compared with that in the control group after treatment, the decrease of leukocyte, neutrophil counts, CRP, PCT, IL-6, ALT, AST, Cr, CK, and CK-MB was more pronounced in the experimental group (P<0.05). Compared with those in the group before treatment, the partial pressure of carbon dioxide increased in the experimental group for 3 d of treatment (P<0.05), and the standard alkali residual, actual alkali residual, standard bicarbonate concentration, and actual bicarbonate concentration increased in the experimental group for 7 d of treatment (P<0.05). Compared with that in the group before treatment, D-dimer decreased in the control group for 7 d of treatment (P<0.05). D-dimer and activated partial thromboplastin time (APTT) decreased in the experimental group for 3 d of treatment (P<0.05), and D-dimer, fibrinogen (FIB), and APTI significantly decreased in the group for 7 d of treatment (P<0.05). Compared with the group for 3 d of treatment, the experimental group for 7 d of treatment showed decreased FIB (P<0.05). Compared with those in the groups before treatment, the levels of inflammatory factors IL-4, IL-10, and IL-13 were elevated in the peripheral blood of the two groups after treatment, and the levels of B lymphocyte chemoattractant (BLC), interferon gamma-induced protein 10 (IP-10), tumor necrosis factor-alpha (TNF-α), interferon-gamma (IFN-γ), monocyte chemoattractant protein-1 (MCP-1), CRP, IL-2, IL-6, IL-8, IL-17, IL-22, and IL-23p19 were significantly reduced (P<0.01). Compared with the control group after treatment, the experimental group exhibited more significant improvement in indexes above (P<0.01). ConclusionThe group treated by Ganluqingwen prescription combined with western medicine shows more significant effects on reducing total scores of TCM syndromes, lowering the ability of leukocyte and neutrophil counts, decreasing BLC, IP-10, TNF-α, IFN-γ, MCP-1, CRP, IL-2, IL-6, IL-8, IL-17, IL-22, and IL-23p19 in the peripheral blood of the patients, and elevating levels of IL-4, IL-10, and IL-13 than the group treated by western drugs alone.
7.Relationship of 25- (OH) D and MCP-1 levels with bone mineral density and bone metabolism indexes in preschool children after fractures
Jiangtao LONG ; Jie LI ; Deming BAI ; Qianqian WANG ; Yuankai YANG ; Hongwei XI
Chinese Journal of Endocrine Surgery 2025;19(2):252-256
Objective:To investigate the relationship of the levels of 25-hydroxyvitamin (OH) D, monocyte chemoattractant protein-1 (MCP-1) and bone mineral density (BMD) and bone metabolism in preschool children after fractures.Methods:General data of 200 preschool children with fractures admitted to the Department of Orthopedics of Shanxi Children’s Hospital from Apr. 2021 to Jun. 2024 were retrospectively analyzed. The 25- (OH) D level of the children after fracture was determined by electrochemical luminescence method. According to the 25- (OH) D level, the children were divided into VitD deficiency group, VitD insufficient group and VitD sufficient group. The MCP-1 level, BMD and bone metabolism indexes of children among groups were compared and analyzed. SPSS 26.0 statistical software was used to analyze the data in the paper. According to the data type, t test or χ2 test were used to compare among the groups, and the correlation of 25- (OH) D and MCP-1 levels with BMD and bone metabolism indexes was analyzed by Spearman and Pearson methods. Results:The difference of 25- (OH) D levels in different age childeren was statistically significant ( t = 145.26, P<0.05) , and the analysis showed that 26 cases were VitD deficient, 64 cases were VitD insufficient, and 110 cases were VitD sufficient; The mean BMD in VitD patients with different levels was significantly different ( F=783.25, P<0.05) ; With the increase of MCP-1, PTH and TPINP levels decreased ( F=78.98, 703.57, 243.27, P<0.05) , while the levels of PICP and BGP increased ( F=122.97, 340.32, P<0.05) ; 25- (OH) D was positively correlated with BMD, PICP and BGP ( r=0.93, 0.76, 0.87, P<0.05) , and negatively correlated with PTH and TPINP ( r=-0.94, -0.81, P<0.05) . MCP-1 was negatively correlated with BMD, PICP and BGP ( r=-0.54, -0.51, -0.56, P<0.05) , and positively correlated with PTH and TPINP ( r=0.57, 0.55, P<0.05) . Conclusions:The 25- (OH) D level is significantly correlated with BMD and bone metabolism indexes in preschool children after fracture, and the lack and insufficiency of VitD significantly affect BMD and bone metabolism status. At the same time, MCP-1 may also play an important role in metabolic changes after fracture. Therefore, in clinical treatment, it is necessary to strengthen the monitoring and management of 25- (OH) D and MCP-1 levels after fracture in children, which is of great significance to promote bone healing and improve bone density.
8.MRI subtraction technique for evaluating efficacy of systemic therapy for advanced hepatocellular carcinoma and predicting prognosis after combining with surgery
Tao XIANG ; Bing YUAN ; Xiaohui LI ; Jinghui DONG ; Zhenyu ZHU ; Dingkun LIU ; Jian YANG ; Danni AI ; Jiangtao LIU ; Feng DUAN
Chinese Journal of Interventional Imaging and Therapy 2025;22(3):210-215
Objective To explore the value of MRI subtraction technique(ST)for evaluating the efficacy of systemic therapy for advanced hepatocellular carcinoma(HCC)and predicting prognosis after combining with surgery.Methods Totally 35 patients with 39 HCC lesions who received systemic therapy+radical resection were retrospectively collected.Based on preoperative MRI,tumor activity ratio(recorded as tumor activityST)was obtained with ST,while tumor activity value(recorded as tumor activitypathology)was obtained through postoperative pathology,and their correlation was analyzed.The patients were regularly followed up after surgery,and the survival data were recorded.Receiver operating characteristic(ROC)curve was drawn to evaluate the efficacy of tumor activityST for predicting patients'survival status.Then the patients were divided into survival benefit group and no survival benefit group according to the cut-off value,and survival analysis was conducted.Results Tumor activityST was positively correlated with tumor activitypathology(r=0.900,P<0.001).The median follow-up time was 32.93 months,during which 8 patients died,and the median survival time was 29.9 months.The area under the curve(AUC)of tumor activityST for predicting patients'survival status was 0.67,and the cut-off value was 0.36.Thirty patients with tumor activityST<0.36 were enrolled in survival benefit group,while 5 patients≥0.36 were collected in no survival benefit group.The overall survival in survival benefit group was longer than that in no survival benefit group(P<0.001).Conclusion MRI ST could be used to non-invasively evaluate the efficacy of systemic therapy for advanced HCC and predict prognosis after combining with surgery.
9.Identification of Jr(a-) rare blood type antibodies against anti-Jra: serological and molecular biology analysis and transfusion strategy.
Yunxiang WU ; Hua WANG ; Ruiqing GUO ; Zhicheng LI ; Qing LI ; Dong XIANG ; Yanli JI ; Aijing LI ; Fengyong ZHAO ; Fei WANG ; Jiangtao ZUO ; Yi XU ; Yajun LIANG ; Demei ZHANG
Chinese Journal of Medical Genetics 2025;42(2):145-150
OBJECTIVE:
To report the blood group antigen and antibody specificity identification methods for a patient with high-frequency antibodies, and the process of finding and providing compatible blood for the patient.
METHODS:
A patient sent from the Blood Transfusion Department of Shanxi Provincial People's Hospital to Blood Transfusion Technology Research Laboratory of Taiyuan Blood Center in November 2022 was selected for the study. Classical serological methods were used to determine the patient's blood type, screen for unexpected antibodies, identify antibodies, and perform crossmatching. High-frequency antibody identification was carried out using red blood cells treated with various enzymes. Blood group genotyping was conducted using Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF) and Sanger sequencing. Multiple strategies were employed to address the patient's blood source problem. The study was approved by the Medical Ethics Committee of Taiyuan Blood Center [Ethics No. 2024 Ethics Review No.(2)].
RESULTS:
The patient's blood type was B, RhD positive. Initial screening of the patient's serum with multiple screening cells and antibody identification cells in saline medium was negative, but positive in antiglobulin medium. The patient's serum showed varying reaction intensities with red blood cells treated with different enzymes. MALDI-TOF mass spectrometry and Sanger sequencing revealed a homozygous nonsense variant c.376C>T (p.Gln126Ter) in the ABCG2 gene, resulting in the Jr(a-) phenotype. During family donor selection, the patient's son was found to have a heterozygous variant c.376C>T (p.Gln126Ter), and another heterozygous variant c.421C>A (p.Gln141Lys), which predicted a Jr(a+w) phenotype. Crossmatch tests confirmed the compatibility of blood from the patient's son, which was used to address the urgent blood requirement. Later, rare blood from a Jr(a-) donor from the Guangzhou Blood Center was used for the patient's ongoing treatment, saving the patient's life.
CONCLUSION
Combining classic serological testing with blood group gene typing techniques successfully identified the rare Jr(a-) blood type and high-frequency anti-Jra antibodies. Enzyme-treated red blood cell identification methods confirmed the presence of anti-Jra antibodies. By searching within the family and seeking help from other blood centers, compatible blood was found. This approach may provide insights for resolving similar complex blood matching problems in the future.
Humans
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Blood Grouping and Crossmatching/methods*
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Blood Group Antigens/immunology*
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Blood Transfusion
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Male
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Isoantibodies/blood*
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Female
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Genotype
10.Effect of variants in the non-coding region of ABO blood group alleles on the weak expression of antigens.
Hua WANG ; Yunxiang WU ; Fei WANG ; Yajun LIANG ; Qing LI ; Jiangtao ZUO ; Yi XU ; Zhicheng LI ; Ruiqing GUO ; Xin ZHANG ; Demei ZHANG
Chinese Journal of Medical Genetics 2025;42(5):628-632
OBJECTIVE:
To explore the regulatory mechanisms underlying the weak expression of ABO blood group antigens due to variants in the non-coding regions of the ABO gene.
METHODS:
From June 2014 to October 2023, a total of 29 samples from the Taiyuan Blood Center and local hospitals, which were serologically identified as having weak ABO antigen expression without detectable coding region mutations, were selected for this study. Full-length ABO gene sequencing was performed using third-generation long-read sequencing technology (Pacific Biosciences) to obtain complete haplotype sequences of the ABO gene. Variants in the non-coding regions were compared and identified to infer their regulatory effects on weak antigen expression. The procedures followed in this study were in accordance with the ethical standards of the World Medical Association's Declaration of Helsinki (2013 revision). The Medical Ethics Committee of Taiyuan Blood Center has granted an exemption from ethical review.
RESULTS:
18 bp deletions in the -35 to -18 region of the promoter were identified in 7 samples. Variants in intron 1 (+5.8 kb) were detected in 7 samples, including ABO*A (28+5792_5793delCT (1 case) and ABO*B (28+5793T>C) located in the GATA binding region; ABO*B (28+5808C>T) (1 case) in the E-box region; and ABO*B (28+5875C>T) (4 cases) in the RUNX1 binding region. Nucleotide variants at splice sites were detected in 2 samples, namely ABO*B (C.98+1G>A) and ABO*B (C.204-2A>C).
CONCLUSION
Variants in the non-coding regulatory sequences of the ABO gene are a significant factor contributing to weak ABO antigen expression. In clinical ABO sequencing, it is essential to screen not only the conventional coding regions but also the flanking sequences, introns, and splice sites of the ABO gene to facilitate precise blood transfusion.
ABO Blood-Group System/genetics*
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Humans
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Alleles
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Promoter Regions, Genetic
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Haplotypes
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Introns

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