中国实验血液学杂志Pub Date : 2025-02-01DOI: 10.19746/j.cnki.issn.1009-2137.2025.01.030
Si-Meng Wu, Qiao-Ni Yang, Wa Gao, Xiao-Shuai Li, Qiu-Shi Wang
{"title":"[Serological and Molecular Biological Characteristics of <i>cis</i>AB Blood Group and Transfusion Strategies].","authors":"Si-Meng Wu, Qiao-Ni Yang, Wa Gao, Xiao-Shuai Li, Qiu-Shi Wang","doi":"10.19746/j.cnki.issn.1009-2137.2025.01.030","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2025.01.030","url":null,"abstract":"<p><strong>Objective: </strong>To analyze the serological and molecular biological characteristics of 5 patients with <i>cis</i> AB blood group, and to explore the safe transfusion strategy.</p><p><strong>Methods: </strong>Serological identification of the samples' blood group was performed using anti-A, anti-B, anti-D, anti-A1, anti-H typing reagents and ABO reagent erythrocytes. Molecular biological identification of the samples' blood group was performed using PCR-SSP or gene sequencing.</p><p><strong>Results: </strong>The serological identification results of blood group in 5 patients all showed inconsistent forward and reverse typing, presenting as A<sub>2</sub>B<sub>3</sub> or A<sub>2</sub>B<sub>w</sub>. <i>ABO</i> gene sequencing of samples 1, 2 and 3 showed 261delG in exon 6 and 467C>T, 803G>C in exon 7. The genotypes of samples 1, 2 and 3 were determined to be <i>cisAB/O</i> . PCR-SSP genotyping was performed on sample 4 and 5,and the results were both <i>cisAB/O</i> .</p><p><strong>Conclusion: </strong>Patients with <i>cisAB</i> alleles have inconsistent serological manifestations, and genetic testing is necessary to ensure the safety and effectiveness of blood transfusion.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":"33 1","pages":"206-210"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143524833","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}
中国实验血液学杂志Pub Date : 2025-02-01DOI: 10.19746/j.cnki.issn.1009-2137.2025.01.034
Li-Ning Meng, Qi Yang, Long Tian
{"title":"[Study on the Influencing Factors of Donation Related Vasovagal Reaction Based on Association Rule Analysis].","authors":"Li-Ning Meng, Qi Yang, Long Tian","doi":"10.19746/j.cnki.issn.1009-2137.2025.01.034","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2025.01.034","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the clinical value of association rule analysis for influencing factors of donation related vasovagal reaction (DRVR), using Logistic regression analysis as the reference.</p><p><strong>Methods: </strong>A retrospective study was conducted on 10 000 unpaid blood donors from Zhangjiakou Central Blood Station from June 2019 to June 2021. Their baseline data was collected. Blood donors were divided into the test group with DRVR (<i>n</i>=386) and the control group without DRVR (<i>n</i>=9614). Logistic regression analysis was performed on all blood donors. The independent risk factor prediction was established for DRVR. Association rule analysis was performed on the test group. The effective strong association rules including DRVR were calculated. Taking Logistic regression analysis prediction as the reference, the results of association rule analysis were evaluated.</p><p><strong>Results: </strong>The logistic regression analysis prediction showed that \"age (20-29 years old)\", \"gender (female)\", \"BMI (≤18 kg/m<sup>2</sup>)\", \"blood pressure (low)\", and \"hemoglobin level (low)\" were the independent risk factors for DRVR (all <i>P</i> < 0.05). There were 8 effective strong association rules including DRVR in total: The two-item rules were \"age (20-29 years old), DRVR\", \"gender (female), DRVR\", \"BMI (≤18 kg/m<sup>2</sup>), DRVR\", \"blood pressure (low), DRVR\", \"hemoglobin level (low), DRVR\". The three-item rules were \"age (20-29 years old), gender (female), DRVR\", \"BMI (≤18 kg/m<sup>2</sup>), blood pressure (low), DRVR\", \"BMI (≤18 kg/m<sup>2</sup>), blood donation volume (400 mL), and DRVR\". The results of the two rules in association rule analysis included all independent risk factors leading to DRVR and similar incidence rate change of DRVR. The results of the three rules had determined the range of high-risk groups for DRVR.</p><p><strong>Conclusion: </strong>Compared to the Logistic regressive analysis, the results of association rule analysis have more clinical value, which provide a method reference for further improving the accuracy of DRVR prediction.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":"33 1","pages":"230-235"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143524837","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}
{"title":"[Efficacy and Safety of DCAG Regimen in Patients with Relapsed/Refractory Acute Myeloid Leukemia].","authors":"Hui-Sheng Zhou, Yu-Qing Li, Yu-Xin Wang, Ya-Lei Hu, Kai-Li Min, Chun-Ji Gao, Dai-Hong Liu, Xiao-Ning Gao","doi":"10.19746/j.cnki.issn.1009-2137.2025.01.002","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2025.01.002","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the efficacy and safety of DCAG (decitabine, cytarabine, anthracyclines, and granulocyte colony-stimulating factor) regimen in the treatment of patients with relapsed/refractory (R/R) acute myeloid leukemia (AML).</p><p><strong>Methods: </strong>The clinical data of 64 R/R AML patients received treatment at Chinese PLA General Hospital from January 1st, 2012 to December 31st, 2022 were retrospectively analyzed. Primary endpoints included efficacy measured by overall response rate (ORR) and safety. Secondary endpoints included overall survival (OS), event-free survival (EFS) and duration of response (DOR). The patients were followed from enrollment until death, or the end of last follow-up (June 1st, 2023), whichever occurred first.</p><p><strong>Results: </strong>Sixty-four patients who failed prior therapy were enrolled and completed 1 cycle, and 26 and 5 patients completed 2 and 3 cycles, respectively. Objective response rate was 67.2% [39: complete remission (CR)/CR with incomplete hematologic recovery (CRi), 4: partial remission (PR)]. With a median follow-up of 62.0 months (1.0-120.9), the median overall survival (OS) was 23.3 and event-free survival was 10.6 months. The median OS was 51.7 months (3.4-100.0) in responders (CR/CRi/PR) while it was 8.4 months (6.1-10.7) in nonresponders ( <i>P</i> <0.001). Grade 3-4 hematologic toxicities were observed in all patients. Four patients died from rapid disease progression within 8 weeks after chemotherapy.</p><p><strong>Conclusion: </strong>The DCAG regimen represents a feasible and effective treatment for R/R AML.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":"33 1","pages":"9-19"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143524605","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}
中国实验血液学杂志Pub Date : 2025-02-01DOI: 10.19746/j.cnki.issn.1009-2137.2025.01.028
Jia-Hao DU, Li-Li Zhao, Biao Yang, Ke-Sheng Dai
{"title":"[Influencing Factors of FeCl<sub>3</sub> Induced Mouse Carotid Artery Thrombosis Model].","authors":"Jia-Hao DU, Li-Li Zhao, Biao Yang, Ke-Sheng Dai","doi":"10.19746/j.cnki.issn.1009-2137.2025.01.028","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2025.01.028","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the factors affecting ferric chloride (FeCl<sub>3</sub>) - induced carotid artery thrombosis model experiment.</p><p><strong>Methods: </strong>After the common carotid artery was damaged by FeCl<sub>3</sub>, the injured vessels were dissected for fixation, embedding, frozen section, and then processed HE staining. The carotid thrombus area ratio was calculated. We examined the effect of FeCl<sub>3</sub> concentration (5%, 10% and 15%), reaction time (2, 4 and 6 min), and recipient mouse age (4-5, 6-8 and 10 weeks) on the formation and stability of arterial thrombosis model. The model was injected through the post-glomus venous plexus of mouse eyeball with 0.075 μg/g and 0.1 μg/g R300 to verify the accuracy of the FeCl<sub>3</sub>-induced model on thrombus formation by adjusting the platelet number.</p><p><strong>Results: </strong>HE staining showed that thrombus formation induced by 10% and 15% FeCl<sub>3</sub> was more stable, dense and larger than 5% FeCl<sub>3</sub>-induced thrombosis. 10% FeCl<sub>3</sub> induced the formation of dense and large thrombosis after 4 and 6 minutes of vascular endothelium injury, while the thrombosis induced for 2 minutes were looser and smaller in area. Mouse age can not affect thrombus formation and stability, because there were no significant differences in the formation of dense thrombus and thrombus area induced by 10% FeCl<sub>3</sub> among three different age groups of mice.</p><p><strong>Conclusion: </strong>Many factors affect the formation and stability of arterial thrombosis model induced by FeCl<sub>3</sub>. This optimal experimental conditions for construction of a stable carotid artery thrombosis model are 10% FeCl<sub>3</sub>, 4 minutes for injury, and 6-8 week old mice.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":"33 1","pages":"193-197"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143524757","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}
中国实验血液学杂志Pub Date : 2025-02-01DOI: 10.19746/j.cnki.issn.1009-2137.2025.01.033
You-Zhi Zhan, Wei-Mei Jiang, Fang Chen, Shou Lin, Hong-Keng Lin
{"title":"[The Significance of miR-122 in Early Screening of Hepatitis B Infection in Blood Donors].","authors":"You-Zhi Zhan, Wei-Mei Jiang, Fang Chen, Shou Lin, Hong-Keng Lin","doi":"10.19746/j.cnki.issn.1009-2137.2025.01.033","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2025.01.033","url":null,"abstract":"<p><strong>Objective: </strong>To study the correlation between miR-122 and early HBV infection and analyze its application value in early infection of voluntary blood donors.</p><p><strong>Methods: </strong>A total of 150 samples from voluntary blood donors in Fujian Blood Center from May 2021 to July 2022 were collected and divided into group N (normal group), group E (ELISA single positive group), and group D (both ELISA and nucleic acid positive group), and the general information of the three groups of blood donors was collected. Total RNA was extracted from the three groups of samples, and the expression level of miR-122 was detected by qRT-PCR. The expression differences of miR-122 among the three groups of samples were statistically analyzed, and the correlation between the expression level of miR-122 in group D and its HBV DNA copy number was analyzed. The miRNA database was used to predict the potential target genes of miRNA and perform bioinformatics analysis.</p><p><strong>Results: </strong>There was no statistical difference in gender, education level, and occupation distribution among the three groups, but the age distribution and number of blood donations among different groups were statistically significant. Compared with group N, the relative expression levels of miR-122 in the plasma of group E and group D were significantly downregulated (<i>P</i> < 0.05); the relative expression level of miR-122 in group D was more significantly downregulated than that in group E (<i>P</i> < 0.001). Pearson correlation analysis showed that the expression level of miR-122 in group D was negatively correlated with the HBV-DNA copy number (<i>R</i> <sup>2</sup>=-0.804,<i>P</i> < 0.01). Two potential target genes were screened using the miRNA database: <i>ALDOA</i>(aldolase A) and <i>PKM</i> (pyruvate kinase). GO analysis results showed that the potential target genes of miRNA mainly involved in biological processes including cell homeostasis and regulation of transcriptional processes.</p><p><strong>Conclusion: </strong>Downregulation of miR-122 expression is closely related to early HBV infection and replication activity.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":"33 1","pages":"224-229"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143524257","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}
中国实验血液学杂志Pub Date : 2025-02-01DOI: 10.19746/j.cnki.issn.1009-2137.2025.01.024
Yang Xu, Jian Zhang, Zhi-Hong Lin, Jun Chen, Li-Min Liu, Hui-Ying Qiu, De-Pei Wu
{"title":"[Efficacy and Safety of Venetoclax in Combination with Hypomethylating Agents for the Treatment of High-Risk Myelodysplastic Syndromes].","authors":"Yang Xu, Jian Zhang, Zhi-Hong Lin, Jun Chen, Li-Min Liu, Hui-Ying Qiu, De-Pei Wu","doi":"10.19746/j.cnki.issn.1009-2137.2025.01.024","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2025.01.024","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the clinical efficacy and safety of venetoclax (VEN) in combination with hypomethylating agent (HMA) in the treatment of patients with high-risk myelodysplastic syndromes (MDS).</p><p><strong>Methods: </strong>A total of 30 patients with high-risk MDS who received the combination of VEN and HMA from March 2019 to November 2022 were included. The overall response rate (ORR), modified overall response rate (mORR), overall survival (OS), progression-free survival (PFS), and adverse events of all included patients were evaluated.</p><p><strong>Results: </strong>Among the 30 high-risk MDS patients treated with VEN combined with HMA regimen, 24 cases achieved complete response (CR)/ marrow complete response (mCR), 2 cases achieved partial response (PR), the ORR was 24/30, the median OS was 28.1 months, and the median PFS was 28.1 months. In addition, patients who achieved complete remission / marrow complete remission after treatment had a significantly longer OS than those who did not. Moreover, 12 patients were treated with allogeneic hematopoietic stem cell transplantation (allo-HSCT). There were grade 3 or higher hematologic adverse events including thrombocytopenia (14 cases), neutropenia (14 cases), febrile neutropenia (10 cases) and anemia (7 cases) as well as gastrointestinal adverse events of any grade, such as vomiting (7 cases), diarrhea (5 cases), and constipation (4 cases).</p><p><strong>Conclusion: </strong>VEN in combination with HMA is an effective and safe treatment option in patients with high-risk MDS. This regimen combined with allo-HSCT can improve the prognosis of these patients. Continuous attention to the monitoring and management of adverse events is essential for the patients' safety in this combination therapy.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":"33 1","pages":"168-174"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143524739","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}
中国实验血液学杂志Pub Date : 2025-02-01DOI: 10.19746/j.cnki.issn.1009-2137.2025.01.047
Ling-Rong Tu, Jian Huang
{"title":"[Research Progress of Ropeginterferon α-2b in Treatment of Myeloproliferative Neoplasm --Review].","authors":"Ling-Rong Tu, Jian Huang","doi":"10.19746/j.cnki.issn.1009-2137.2025.01.047","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2025.01.047","url":null,"abstract":"<p><p>Ropeginterferon α-2b (Ropeg), a novel, long-acting pegylated prolene alpha interferon, is the first interferon specifically approved for the treatment of patients with polycythemia vera (PV), and has been found in clinical trials and experience to induce hematologic remission, control disease-related symptoms, and reduce <i>JAK2V617F</i> allelic burden in patients with myeloproliferative neoplasms (MPNs). It has a lower incidence and severity of adverse drug reactions than pegylated interferon alpha and hydroxyurea and a longer dosing interval. Some patients with lowrisk PV and myelofibrosis can benefit from it. This article reviews the latest progress of Ropeg in MPN.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":"33 1","pages":"306-310"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143524796","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}
{"title":"[Analysis of <i>SRSF2</i> Gene Mutation in Patients with Chronic Myelomonocytic Leukemia].","authors":"Chang-Rui Tao, Bi-Tao Xiao, Pin Wu, Zhi-Qi Wang, Hong-Ying Chao","doi":"10.19746/j.cnki.issn.1009-2137.2025.01.003","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2025.01.003","url":null,"abstract":"<p><strong>Objective: </strong>To characterize the occurrence of <i>SRSF2</i> mutations in chronic myelomonocytic leukemia(CMML) patients and their correlation with other gene mutations and some clinical characteristics.</p><p><strong>Methods: </strong>The clinical data of 43 CMML patients diagnosed in Changzhou No.2 People's Hospital and Wuxi No.2 People's Hospital were retrospectively analyzed, and gene mutations detection was performed using next-generation sequencing (NGS).</p><p><strong>Results: </strong>Among the 43 CMML patients the <i>SRSF2</i> mutation detection rate was 39.5%(17/43). These mutations clustered collectively at the proline 95 residue in the splicing factor <i>SRSF2</i>. The other genes with mutation rate greater than 15% were <i>ASXL1</i> (48.8%), <i>TET2</i> (41.9%), <i>NRAS</i> (30.2%), <i>RUNX1</i> (25.6%), and <i>SETBP1</i> (16.3%). Among <i>SRSF2</i>- mutated patients, the most common co-mutation was <i>ASXL1</i>, followed by <i>TET2</i>. The median age of <i>SRSF2</i> mutant patients was significantly higher than that of the wild type (68 <i>vs</i> 51.5, <i>P</i> < 0.001), but there was not statistically significant differences in gender, peripheral leukocytes, hemoglobin, platelets, karyotype, and blast cell compared to the wild-type (all <i>P</i> >0.05). Notably, 4 out of the 6 <i>SRSF2</i> <sup>mut</sup><i>ASXL1</i><sup>mut</sup> CMML patients developed leukemia transformation, and 1 out of 10 <i>SRSF2</i> <sup>wt</sup><i>ASXL1</i><sup>wt</sup> CMML patients developed leukemia transformation, with statistically significant difference in leukemia transformation rates (66.7% <i>vs</i> 10%, <i>P</i> =0.036).</p><p><strong>Conclusion: </strong><i>SRSF2</i> mutations have a high incidence in CMML, occurring frequently in older patients, and often coexisting with <i>ASXL1</i> and <i>TET2</i> mutations. Patients with CMML carrying both <i>SRSF2</i><sup>mut</sup> <i>ASXL1</i><sup>mut</sup> double mutations have a higher risk of acute leukemia transformation.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":"33 1","pages":"20-24"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143524879","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}
中国实验血液学杂志Pub Date : 2025-02-01DOI: 10.19746/j.cnki.issn.1009-2137.2025.01.040
Shuang Liang, Fan Wu, Yan-Lian Liang, Tong Liu, Li-Yan Sun, Yu-Qing Su
{"title":"[Effect of the ABO Gene Variant <i>c.917T>C</i> on the Expression and Functional Role of B-Glycosyltransferase].","authors":"Shuang Liang, Fan Wu, Yan-Lian Liang, Tong Liu, Li-Yan Sun, Yu-Qing Su","doi":"10.19746/j.cnki.issn.1009-2137.2025.01.040","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2025.01.040","url":null,"abstract":"<p><strong>Objective: </strong>By analyzing the correlation between genotypes and phenotypes, we explored the impact of the variant <i>c.917T>C</i> (p.L306P) in the <i>ABO*B.01</i> allele on the expression and function of B-glycosyltransferase (GTB). This study aims to elucidate the molecular mechanisms underlying the occurrence of this subtype.</p><p><strong>Methods: </strong>The study subjects included a blood donor specimen with incompatible forward and reverse ABO typing results. ABO phenotyping was determined using ABO blood group serology and GTB activity testing. Subsequently, Sanger sequencing and third-generation sequencing based on the PacBio platform were employed to sequence the <i>ABO</i> gene, resulting in the determination of haplotype sequences. Mutations were identified through sequence alignment. An <i>in vitro</i> cell expression system was established to assess the impact of the mutation site on antigen expression.</p><p><strong>Results: </strong>The index case in this study was identified as B subtype with the allelic genotype <i>c.917T>C</i> in <i>ABO*B.01/ABO*O.01.01</i> , which has not been previously reported. <i>in vitro</i> expression results revealed decreased levels of GTB expression and overall GTB activity in the mutant cells. Furthermore, the expression of the B antigen on the cell membrane was weaker in the mutant cells compared to the wild-type cells.</p><p><strong>Conclusion: </strong>The p.L306P variation caused by the <i>c.917T>C</i> mutation in the <i>ABO*B.01</i> allele may be a genetic factor contributing to the reduced expression of B antigens on the surface of red blood cells.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":"33 1","pages":"269-275"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143524575","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}
{"title":"[Screening and Preliminary Validation of Multiple Myeloma Specific Proteins].","authors":"Shan Zhao, Hui-Hui Liu, Xiao-Ying Yang, Wei-Wei Xie, Chao Xue, Xiao-Ya He, Jin Wang, Yu-Jun Dong","doi":"10.19746/j.cnki.issn.1009-2137.2025.01.018","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2025.01.018","url":null,"abstract":"<p><strong>Objective: </strong>To screen novel diagnostic marker or therapeutic target for multiple myeloma (MM).</p><p><strong>Methods: </strong><i>Sel1L, SPAG4, KCNN3</i> and <i>PARM1</i> were identified by bioinformatics method based on GEO database as high expression genes in MM. Their RNA and protein expression levels in bone marrow mononuclear cells from myeloma cell lines U266, NCI-H929, MM.1s, RPMI8226 and leukemia cell line THP1, as well as 31 MM patients were evaluated by RT-PCR and Western blot, respectively. Meanwhile, 5 samples of bone marrow from healthy donors for allogeneic hematopoietic stem cell transplantation were employed as controls.</p><p><strong>Results: </strong>Compared with leukemia cell line THP1, the expression levels of <i>KCNN3, PARM1</i> and <i>Sel1L</i> mRNA were significantly increased in myeloma cell lines U266, NCI-H929 and MM.1s, while <i>PARM1</i> was further increased in myeloma cell lines 8226. Western blot showed that the 4 genes were all expressed in the 4 myeloma cell lines. Compared with healthy controls, the expression levels of <i>Sel1L, SPAG4, KCNN3</i> and <i>PARM1</i> mRNA were significantly higher in MM patients (all <i>P</i> < 0.05). Western blot showed that the 4 genes were all expressed in MM patients, and the protein expression level of Sel1L and KCNN3 were significantly different compared with healthy donors (all <i>P</i> < 0.01).</p><p><strong>Conclusion: </strong><i>Sel1L, SPAG4, KCNN3</i> and <i>PARM1</i> may be potential diagnostic markers and therapeutic targets for MM.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":"33 1","pages":"127-132"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143524821","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}