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The low-density lipoprotein debate: indirect methods vs direct measurement in the Nepalese population. 低密度脂蛋白之争:尼泊尔人口中间接方法与直接测量
Laboratory medicine Pub Date : 2025-05-27 DOI: 10.1093/labmed/lmaf016
Ranjan Suwal, Vivek Pant, Sushil Ram Shrestha, Prakash Poudel, Sujan Shrestha, Santosh Pradhan, Shital Bhandary
{"title":"The low-density lipoprotein debate: indirect methods vs direct measurement in the Nepalese population.","authors":"Ranjan Suwal, Vivek Pant, Sushil Ram Shrestha, Prakash Poudel, Sujan Shrestha, Santosh Pradhan, Shital Bhandary","doi":"10.1093/labmed/lmaf016","DOIUrl":"https://doi.org/10.1093/labmed/lmaf016","url":null,"abstract":"<p><strong>Introduction: </strong>Many clinical laboratories use indirect estimation methods for low-density lipoprotein cholesterol (LDL-C) because of cost and practicality. This study compared the accuracy of indirect LDL-C estimates derived from the Friedewald, Puavilai, Hatta, and Martin equations in a Nepalese population.</p><p><strong>Methods: </strong>This retrospective analysis included 7750 patients who underwent lipid profile testing at the Norvic International Hospital, Kathmandu, from February 1 to July 31, 2021. Participants were categorized based on triglyceride levels (<400 mg/dL and ≥400 mg/dL). Pearson correlation, paired t tests, and analysis of variance were employed to assess relationships and differences between directly measured and estimated LDL-C values.</p><p><strong>Results: </strong>The Puavilai equation demonstrated the highest concordance with directly measured LDL-C (92%), followed by the Martin (89%), Friedewald (88%), and Hatta (81%) equations. The Puavilai equation exhibited the smallest discrepancies (mean difference = 8.9 mg/dL) for triglyceride values below 150 mg/dL. The Martin equation was most accurate for triglyceride values above 150 mg/dL (mean difference = 10.0 mg/dL) and remained reliable, even for triglyceride values above 400 mg/dL. The Hatta equation showed the largest estimation errors.</p><p><strong>Discussion: </strong>The Puavilai equation is recommended for estimating LDL-C when triglyceride levels are below 150 mg/dL, while the Martin equation is preferred for levels above this threshold in the Nepalese population.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144164398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Is it anti-D or anti-LW? A brief synopsis of the biology of the LW blood group and the importance and differential laboratory methods to discriminate these specificities. 它是反d还是反lw ?简要介绍LW血型的生物学特点,以及鉴别这些特异性的重要性和不同的实验室方法。
Laboratory medicine Pub Date : 2025-05-24 DOI: 10.1093/labmed/lmaf006
Wael Ibrahim, Daoping Zhang, Dennis Williams, Aaron D Shmookler
{"title":"Is it anti-D or anti-LW? A brief synopsis of the biology of the LW blood group and the importance and differential laboratory methods to discriminate these specificities.","authors":"Wael Ibrahim, Daoping Zhang, Dennis Williams, Aaron D Shmookler","doi":"10.1093/labmed/lmaf006","DOIUrl":"https://doi.org/10.1093/labmed/lmaf006","url":null,"abstract":"<p><strong>Introduction: </strong>The anti-LW antigen is not considered clinically significant. Yet, it can cause some challenges in differentiating it from the anti-D antigen in pretransfusion testing.</p><p><strong>Methods: </strong>This case report discusses a 35-year-old patient with nonmalignant gastrointestinal complications who was identified as having anti-LW during pretransfusion testing. We provide a brief history of the LW system and discuss the laboratory methods used to distinguish anti-LW from anti-D.</p><p><strong>Results: </strong>The patient's prior workup revealed an O RhD-positive blood type and an antibody compatible with anti-D. Auto-control and direct antiglobulin testing with anti-immunoglobulin G were only weakly positive, but the elution was negative. Red blood cell genotyping did not show any RhD variant. Current workup showed the patient's plasma reacting with both RhD-positive and RhD-negative group O cord blood and not reacting with RhD-positive dithiothreitol-treated cells, confirming anti-LW specificity.</p><p><strong>Discussion: </strong>Clarifying an apparent confusion between a true anti-D and a mimicking anti-LW in pretransfusion blood bank testing remains the basis of providing clinically relevant component therapy. Understanding the basics of the LW Blood Group System serology is fundamental to appropriate problem solving.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144145300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Automated detection of free monoclonal light chains by enhanced-sensitivity modified immunofixation electrophoresis with antisera against free light chains. 用抗游离轻链血清增强敏感性修饰免疫固定电泳自动检测游离单克隆轻链。
Laboratory medicine Pub Date : 2025-05-24 DOI: 10.1093/labmed/lmaf014
Gurmukh Singh, Emily J Saldaña, Jeff Spencer, Roni J Bollag
{"title":"Automated detection of free monoclonal light chains by enhanced-sensitivity modified immunofixation electrophoresis with antisera against free light chains.","authors":"Gurmukh Singh, Emily J Saldaña, Jeff Spencer, Roni J Bollag","doi":"10.1093/labmed/lmaf014","DOIUrl":"https://doi.org/10.1093/labmed/lmaf014","url":null,"abstract":"<p><strong>Introduction: </strong>About one-third of multiple myelomas produce excess free monoclonal light chains. Detection of monoclonal light chains is important for diagnosis, prognosis, and monitoring of such lesions. A previously described method for detection of monoclonal light chains in serum required multiple manual wash steps. Even though the method has sensitivity similar to that of mass spectrometry, the manual wash steps were a hindrance to the method's widespread use.</p><p><strong>Methods: </strong>To mitigate the laborious nature of the previous method, the SPIFE Nexus instrument (Helena Laboratories) was modified to automate the sample application, electrophoretic separation, antibody application, washing and blotting steps needed for removal of background proteins. Background noise was mitigated by modifying the wash buffer by adding a detergent. This revised automated electrophoresis protocol was tested in parallel with the previously described method.</p><p><strong>Results: </strong>The sensitivity and specificity of the modified method using antisera to free light chains from 2 sources was comparable to the parameters of the previously described method without the need for manual manipulation.</p><p><strong>Discussion: </strong>The automated protocol employing the SPIFE Nexus instrument and incorporating antisera to free light chains is suitable for routine use in clinical laboratories in an automated, enhanced-sensitivity assay for monoclonal light chains with no need for manual manipulation.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144145295","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correction to: Interference of hemoglobin variants with HbA1c measurements by six commonly used HbA1c methods. 更正:血红蛋白变异体对六种常用 HbA1c 测量方法的干扰。
Laboratory medicine Pub Date : 2025-05-09 DOI: 10.1093/labmed/lmae073
{"title":"Correction to: Interference of hemoglobin variants with HbA1c measurements by six commonly used HbA1c methods.","authors":"","doi":"10.1093/labmed/lmae073","DOIUrl":"10.1093/labmed/lmae073","url":null,"abstract":"","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"320"},"PeriodicalIF":0.0,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142010168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Associations between glycemic status and the ratio of γ-glutamyl transferase to HDL-C in middle-aged women. 中年女性血糖状况与γ-谷氨酰转移酶与高密度脂蛋白胆固醇比率之间的关系。
Laboratory medicine Pub Date : 2025-05-09 DOI: 10.1093/labmed/lmae084
Ichiro Wakabayashi
{"title":"Associations between glycemic status and the ratio of γ-glutamyl transferase to HDL-C in middle-aged women.","authors":"Ichiro Wakabayashi","doi":"10.1093/labmed/lmae084","DOIUrl":"10.1093/labmed/lmae084","url":null,"abstract":"<p><strong>Objective: </strong>The ratio of γ-glutamyl transferase to HDL-C (GGT/HDL-C) has been proposed as a discriminator of metabolic syndrome. The purpose of this study was to elucidate the relationship between GGT/HDL-C and glycemic status in women.</p><p><strong>Methods: </strong>The subjects were 18,218 middle-aged women who had received annual health checkups in their workplaces. They were divided by habitual alcohol intake into nondrinkers, occasional drinkers, regular light drinkers, and regular heavy drinkers.</p><p><strong>Results: </strong>In overall subjects, hemoglobin A1c level and prevalence of diabetes tended to be higher in subjects with higher GGT/HDL-C, and GGT/HDL-C tended to be higher with an increase of alcohol intake. The odds ratio for hyperglycemia in subjects with vs. subjects without high GGT/HDL-C tended to be lower with an increase of alcohol intake, and the association between high GGT/HDL-C and hyperglycemia was significantly weaker in regular heavy drinkers than in nondrinkers.</p><p><strong>Conclusion: </strong>In middle-aged women, there were positive associations of GGT/HDL-C with alcohol intake and glycemic status, and the association between GGT/HDL-C and glycemic status tended to be weaker with an increase of alcohol intake. Thus, alcohol use should be taken into account when GGT/HDL-C is used as a discriminator of diabetes.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"230-237"},"PeriodicalIF":0.0,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142564440","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Is the repeat worth it? Optimizing syndromic panel pathogen detection protocols. 这样的重复值得吗?优化综合征组病原体检测方案。
Laboratory medicine Pub Date : 2025-05-09 DOI: 10.1093/labmed/lmae100
Filipe M Cerqueira, Linh Do, Janet Enderle, Ping Ren
{"title":"Is the repeat worth it? Optimizing syndromic panel pathogen detection protocols.","authors":"Filipe M Cerqueira, Linh Do, Janet Enderle, Ping Ren","doi":"10.1093/labmed/lmae100","DOIUrl":"10.1093/labmed/lmae100","url":null,"abstract":"<p><strong>Objective: </strong>The aim of the study was to compare the cost and clinical impact of repeating BioFire FilmArray gastrointestinal (GI) and respiratory (RP) panel assays with 3 vs 4 pathogen targets positive.</p><p><strong>Method: </strong>We analyzed 12,027 GI and RP panels to evaluate our retesting policy, which retested panels with 3 or more detected pathogens (3-pathogen protocol) compared with the manufacturer's 4-pathogen (4-pathogen protocol) recommendation. We compared the retesting results, calculated the cost implications, and reviewed the clinical impact on antibiotic prescriptions and patient outcomes.</p><p><strong>Results: </strong>Retesting with our 3-pathogen protocol revealed that 81% (39/48) of GI and 76% (26/34) of RP panels had identical results, whereas 19% (9/48) of GI and 24% (8/34) of RP panels showed discrepancies on retesting. The additional cost incurred by our protocol compared with the manufacturer's protocol was $9820.32. There was no evidence that our more stringent policy affected antibiotic prescription or clinical outcomes.</p><p><strong>Conclusion: </strong>Our more stringent 3-pathogen protocol for retesting panels did not improve patient management compared with the manufacturer's 4-pathogen protocol but resulted in unnecessary costs and increased the risk of depleting testing kits during supply shortages. Consequently, we adopted the manufacturer's suggestions, highlighting the need to balance clinical rigor with cost-effectiveness in laboratory testing protocols.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"285-290"},"PeriodicalIF":0.0,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142840713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
SNAP25 as a prognostic marker in transcriptome analysis of meningioma. 脑膜瘤转录组分析中的预后标志物 SNAP25
Laboratory medicine Pub Date : 2025-05-09 DOI: 10.1093/labmed/lmae085
Yu Ge, Tao Zhang
{"title":"SNAP25 as a prognostic marker in transcriptome analysis of meningioma.","authors":"Yu Ge, Tao Zhang","doi":"10.1093/labmed/lmae085","DOIUrl":"10.1093/labmed/lmae085","url":null,"abstract":"<p><strong>Background: </strong>Meningiomas are the most common intracranial tumors and their diagnosis relies mostly on neuroimaging and histology. However, the histology grades cannot predict the outcome exactly and some meningiomas tend to recur after resection of even benign tumors. Therefore, it is necessary to explore prognostic and diagnostic molecular targets.</p><p><strong>Methods: </strong>Differential expression analysis between meningiomas and meninges was performed based on the merged data of GSE43290 and GSE84263. Next, we performed gene set enrichment analysis (GSEA), immune cell infiltration analysis, protein-protein interaction analysis, and survival analysis using public data. The expression level of Synaptosome-associated-protein-25kDa (SNAP25) was verified by reverse transcription quantitative real-time polymerase chain reaction (RT-qPCR) and Western blotting in meningioma tissues.</p><p><strong>Results: </strong>There were 263 upregulated and 592 downregulated genes identified in meningiomas by differential expression analysis. GSEA results revealed that meningiomas were negatively related to the pathway of soluble N-ethylmaleimide sensitive factor attachment protein receptor interactions in vascular transport and chemokine signaling. SNAP25 was characterized as a hub gene and downregulated in meningiomas. The Kaplan-Meier plot indicated that high expression of SNAP25 is a favorable factor.</p><p><strong>Conclusion: </strong>SNAP25 was downregulated and identified as a potential prognostic marker in meningioma.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"238-248"},"PeriodicalIF":0.0,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142607444","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The utility of an algorithm based on procalcitonin monitoring in patients with sepsis. 基于脓毒症患者降钙素原监测的算法的实用性。
Laboratory medicine Pub Date : 2025-05-09 DOI: 10.1093/labmed/lmae074
Alicia de Lózar de la Viña, Gloria Andrade Vivero, Eduardo Palencia Herrejón, Eva Márquez Liétor, Tamar Talaván Zanón, Elia Pérez-Fernández, Fernando Cava Valenciano, Eduardo Tamayo Gómez
{"title":"The utility of an algorithm based on procalcitonin monitoring in patients with sepsis.","authors":"Alicia de Lózar de la Viña, Gloria Andrade Vivero, Eduardo Palencia Herrejón, Eva Márquez Liétor, Tamar Talaván Zanón, Elia Pérez-Fernández, Fernando Cava Valenciano, Eduardo Tamayo Gómez","doi":"10.1093/labmed/lmae074","DOIUrl":"10.1093/labmed/lmae074","url":null,"abstract":"<p><strong>Objective: </strong>The aim of the study was to develop and validate an algorithm based on procalcitonin (PCT) monitoring to predict the prognosis of patients with sepsis.</p><p><strong>Design: </strong>The design was a retrospective and observational prospective study.</p><p><strong>Setting: </strong>The study was set in intensive care units (ICUs) in 2 different hospitals in Spain.</p><p><strong>Patients: </strong>Patients in the study included 101 patients with sepsis aged ≥18 years.</p><p><strong>Interventions: </strong>In the retrospective study, PCT results from patients admitted to the ICU in 2011-2012 were collected. In the prospective study, PCT was determined at specific time points as indicated by the algorithm from March 2018 to April 2019. The primary outcome measure, 28-day mortality, was the main variable of interest.</p><p><strong>Results: </strong>The study developed an algorithm based on early PCT monitoring for predicting the prognosis of patients with sepsis. The algorithm was initially developed retrospectively in 1 cohort and subsequently validated prospectively in another cohort.</p><p><strong>Conclusions: </strong>The developed algorithm provides information on the prognosis of patients with sepsis, distinguishing between those with a good prognosis and those with a poor prognosis (defined as mortality).</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"220-229"},"PeriodicalIF":0.0,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142515513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Diagnostic value of TAP, PIVKA-II, and AFP in hepatocellular carcinoma and their prognostic value for patients treated with transarterial chemoembolization. TAP、PIVKA-II、AFP对肝细胞癌的诊断价值及其对经动脉化疗栓塞患者的预后价值。
Laboratory medicine Pub Date : 2025-05-09 DOI: 10.1093/labmed/lmae104
Delu Gan, Yali Wang, Xin Yang, Juan Huang, Lijun Zhang, Bianqin Guo, Pu Li, Dan Gou
{"title":"Diagnostic value of TAP, PIVKA-II, and AFP in hepatocellular carcinoma and their prognostic value for patients treated with transarterial chemoembolization.","authors":"Delu Gan, Yali Wang, Xin Yang, Juan Huang, Lijun Zhang, Bianqin Guo, Pu Li, Dan Gou","doi":"10.1093/labmed/lmae104","DOIUrl":"10.1093/labmed/lmae104","url":null,"abstract":"<p><strong>Objective: </strong>The diagnosis and prognosis of hepatocellular carcinoma (HCC) present significant challenges in clinical practice. This study aimed to evaluate the clinical utility of tumor abnormal protein (TAP), Prothrombin induced by vitamin K absence-II (PIVKA-II), and alpha-fetoprotein (AFP) in diagnosing HCC as well as to investigate their prognostic significance in patients with HCC undergoing transarterial chemoembolization.</p><p><strong>Methods: </strong>A total of 93 HCC patients were enrolled and 101 healthy individuals served as controls. Fresh venous blood samples were collected, and TAP, PIVKA-II, and AFP levels were measured by chemiluminescence immunoassay.</p><p><strong>Results: </strong>Significant differences in TAP, PIVKA-II, and AFP levels were found between HCC patients and healthy individuals. The combined assay of TAP, AFP, and PIVKA-II showed better diagnostic performance for HCC. Patients who underwent transarterial chemoembolization and achieved complete response (CR) had lower levels of prechemotherapy serum TAP, AFP, and PIVKA-II. There are significant differences in levels of TAP, AFP, and PIVKA-II between CR and partial response (PR), CR and stable disease (SD), and CR and progressive disease (PD).</p><p><strong>Conclusion: </strong>Combined detection of TAP, PIVKA-II, and AFP has better diagnostic performance for HCC. Higher levels of prechemotherapy serum TAP, AFP, and PIVKA-II are significantly associated with poor clinical chemoresponse.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"297-304"},"PeriodicalIF":0.0,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142924363","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Serologic and molecular identification of the variation on ABO*B.01 gene in ABO glycosyltransferases associated with Bw phenotype: a case report. ABO*B变异的血清学和分子鉴定。ABO糖基转移酶01基因与Bw表型相关1例报告
Laboratory medicine Pub Date : 2025-05-09 DOI: 10.1093/labmed/lmae086
Xiaoshuai Li, Qiushi Wang
{"title":"Serologic and molecular identification of the variation on ABO*B.01 gene in ABO glycosyltransferases associated with Bw phenotype: a case report.","authors":"Xiaoshuai Li, Qiushi Wang","doi":"10.1093/labmed/lmae086","DOIUrl":"10.1093/labmed/lmae086","url":null,"abstract":"<p><p>AB antigen is formed by glycosyltransferase enzyme, which catalyzes the corresponding substrates to be connected to the galactose of the precursor substance H antigen. To study the effect of the α-1,3-D galactosyltransferase (GTB) gene mutation on B antigen expression, we explored its molecular mechanism by combining molecular biological methods with bioinformatics. The ABO blood type of the patients was identified using conventional serologic methods, and the polymerase chain reaction (PCR) products of exons 1-7 of the ABO gene were directly sequenced using gene-specific primers and direct sequencing. Proteins in the secretory supernatant of transfected cells were collected in vitro, and GTB content was quantitatively analyzed using western blotting. Bioinformatics software was used to simulate the 3-dimensional structure of the mutant protein. In this case, the patient's serologic test results revealed subtype B. Gene sequencing results confirmed a mutation at base 278 of exon 6. The mutation (c.278C>T) changed the 93rd amino acid of the protein polypeptide chain from proline to leucine (p.P93L). The variant p.P93L did not affect the expression and secretion of GTB, but affected enzyme activity and stability, ultimately manifesting as weakened expression of the B antigen and reduced affinity.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"312-317"},"PeriodicalIF":0.0,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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