1.Relationship between metabolic score for insulin resistance and overactive bladder in the US population based on NHANES data from 2005 to 2018
Guoliang XU ; Feiyang GAO ; Xihao WANG ; Jiangtao ZHU ; Wei LIN ; Pengyue LIU ; Yongjun YAN
Journal of Modern Urology 2025;30(5):416-423
Objective: To assess the association between the metabolic score for insulin resistance index (METS-IR) and overactive bladder (OAB) in the US population,so as to explore the potential of METS-IR as a predictive tool for OAB risk and to provide insights for early screening and intervention strategies. Methods: Based on the data from the National Health and Nutrition Examination Survey (NHANES) 2005-2018,a cross-sectional design was employed,and multivariate logistic regression models were used to analyze the association between METS-IR and OAB. METS-IR was analyzed both as a continuous variable and categorized into quartiles. To further validate the association between METS-IR and OAB across diverse populations,subgroup analyses were conducted in participants stratified by clinical characteristics. Smooth curve fitting was employed to test the linearity of the METS-IR-OAB relationship. Results: Elevated METS-IR was associated with an increased risk of OAB (P<0.001),and this positive correlation remained stable when METS-IR was categorized into quartiles (P<0.001). Subgroup analyses revealed that the association between METS-IR and OAB was more pronounced in females,participants younger than 55 years,and non-diabetic individuals (P<0.05). Furthermore,smooth curve fitting confirmed a linear positive correlation between METS-IR and OAB,with this linear relationship observed in both diabetic and non-diabetic groups. Conclusion: This study,based on the NHANES 2005-2018 database,found a linear positive correlation between METS-IR and OAB.
2.Association of NLRP3 genetic variant rs10754555 with early-onset coronary artery disease.
Lingfeng ZHA ; Chengqi XU ; Mengqi WANG ; Shaofang NIE ; Miao YU ; Jiangtao DONG ; Qianwen CHEN ; Tian XIE ; Meilin LIU ; Fen YANG ; Zhengfeng ZHU ; Xin TU ; Qing K WANG ; Zhilei SHAN ; Xiang CHENG
Chinese Medical Journal 2025;138(21):2844-2846
3.n-butanol fraction of ethanol extract of Periploca forrestii Schltr.: its active components, targets and pathways for treating Alcheimer's disease in rats.
Niandong RAN ; Jie LIU ; Jian XU ; Yongping ZHANG ; Jiangtao GUO
Journal of Southern Medical University 2025;45(4):785-798
OBJECTIVES:
To investigate the active components and possible mechanisms of n-butanol fraction of Periploca forrestii Schltr. ethanol extract for treating Alzheimer's disease (AD).
METHODS:
The active components of n-butanol fraction of Periploca forrestii Schltr. ethanol extract were analyzed using UPLC-QE-MS technique. In a SD rat model of AD induced by treatment with AlCl3 and D-gal, the therapeutic effects of low, moderate and high doses of the n-butanol fraction, saline, and donepezil hydrochloride were evaluated using ELISA, HE and Nissl staining, immunohistochemistry and Western blotting. The therapeutic mechanisms of the n-butanol fraction were explored using network pharmacology and molecular docking.
RESULTS:
Seventeen active components were identified from the n-butanol fraction of Periploca forrestii Schltr. ethanol extract, including phenylpropanoids, flavonoids, anthraquinones, triterpenoids, steroids, and volatile oils. In the rat models of AD, treatment with the n-butanol fraction significantly lowed AChE content in the hippocampus, increased the contents of ACh, SOD, CAT, and GSH-Px, enhanced the expressions of neuronal apoptotic factors Bcl-2, PI3K, Akt, p-PI3K, and p-Akt, and reduced the expressions of Bax and caspase-3 proteins. The treatment also dose-dependently up-regulated hippocampal expressions of Nrf-2, HO-1 and BDNF and down-regulated Keap-1, Aβ and Tau expressions. Bioinformatics analysis identified 14 key intersected targets (including TNF, AKT1 and ESR1) between the n-butanol fraction and AD.
CONCLUSIONS
The therapeutic effect of n-butanol fraction of Periploca forrestii Schltr. ethanol extract in AD mice is mediated by its multiple active components that regulate multiple targets and pathways.
Animals
;
Rats, Sprague-Dawley
;
Rats
;
1-Butanol/chemistry*
;
Plant Extracts/pharmacology*
;
Periploca/chemistry*
;
Ethanol/chemistry*
;
Alzheimer Disease/drug therapy*
;
Male
;
Molecular Docking Simulation
;
Apoptosis/drug effects*
4.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.
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.The value of MRI three-dimensional fat suppression fast spoiled gradient echo sequence in preoperative evaluation of children with congenital radial polydactyly
Jie LI ; Yingyu JIA ; Quan YUN ; Deming BAI ; Qianqian WANG ; Shuming XU ; Huimiao SUN ; Jiangtao LONG
Chinese Journal of Plastic Surgery 2025;41(11):1143-1151
Objective:To explore the clinical value of the three-dimensional fat suppression fast spoiled gradient echo (3D-FS-FSPGR) MRI sequence in the preoperative evaluation of congenital radial polydactyly.Methods:The data of children with congenital radial polydactyly who underwent surgical treatment in the Department of Orthopedics at Shanxi Children’s Hospital from May 2021 to April 2022 were retrospectively analyzed. Preoperative X-ray examinations and MRI 3D-FS-FSPGR sequence scans were performed on the children. Radiologists first described the morphological characteristics of the articular cartilage, and then orthopedic surgeons performed the Wassel classification based on the X-ray and MRI imaging result, focusing on the bifurcation level, morphology, and articular surface of the phalangeal and metacarpal cartilage. The corresponding surgical method was selected according to the Wassel classification, and intraoperative incision exploration was used as the gold standard. Six months after surgery, the surgical outcome was evaluated using the modified Tada scoring system [with a total score of 0-7, and classified as excellent: >5 points, good: 3-5 points, and poor: <3 points; the excellent and good rate = (excellent + good) cases/total number of cases × 100%]. The appearance, function and recurrence of the operated finger were evaluated 1 year after surgery. Descriptive statistics were performed using SPSS 26.0 software, and the Kappa coefficient was used to evaluate the consistency of the Wassel classification result between radiographs, MRI 3D-FS-FSPGR sequences and intraoperative exploration respectively.Results:A total of 45 children (55 fingers) with congenital radial polydactyly were enrolled, including 25 males and 20 females, aged 5 to 60 months, with the median age of 9 months. Unilateral findings were seen in 35 cases and bilateral findings in 10 cases. MRI 3D-FS-FSPGR imaging sequences clearly demonstrated the level of cartilage bifurcation and bone tissue growth and development, which were consistent with intraoperative exploration findings. The accuracy of the MRI 3D-FS-FSPGR Wassel classification was 100% (55/55), and the accuracy of the X-ray Wassel classification was 81.8% (45/55). Disagreements were found in the classifications of five fingers: three with X-ray classifications of Wassel type Ⅳ but actually classified as type Ⅲ, and two with X-ray classifications of Wassel type Ⅳ but actually classified as type Ⅴ. The Kappa coefficients were all >0.85. All patients were followed up for 1 year. The modified Tada score showed excellent in 41 fingers, good in 6 fingers, and poor in 8 fingers, for an excellent and good rate of 85.5% (47/55). At final follow-up, the reconstructed thumbs showed significant improvement in appearance, with normal bone axis restoration, no deviation of the digits, and normal nail appearance. There was no significant scarring or contracture. Functions of thumb flexion, extension, grasping, and opposition were good. There was no postoperative deformity or recurrence.Conclusion:MRI 3D-FS-FSPGR sequences can accurately classify congenital radial polydactyly preoperatively, optimize the surgical incision and osteotomy alignment, and achieve excellent surgical outcomes.
7.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 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:①The 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. ②MALDI-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. ③Crossmatch 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.
8.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.
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
;
Blood Grouping and Crossmatching/methods*
;
Blood Group Antigens/immunology*
;
Blood Transfusion
;
Male
;
Isoantibodies/blood*
;
Female
;
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*
;
Humans
;
Alleles
;
Promoter Regions, Genetic
;
Haplotypes
;
Introns

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