1.Surgical treatment of hepatic alveolar echinococcosis: challenges and innovations
Pei ZHANG ; Lu ZHAO ; Yunfei FANG ; Hui YANG ; Yifan WANG ; Yanqiong MA ; Yu MENG
Organ Transplantation 2026;17(3):512-518
Hepatic alveolar echinococcosis is a highly invasive zoonotic parasitic disease with poor prognosis. Surgical intervention serves as the pivotal approach to achieve radical cure and improve the prognosis of hepatic alveolar echinococcosis patients. In recent years, with the popularization of the concept of precision surgery and the development of the multidisciplinary diagnosis and treatment model, the surgical treatment strategies for hepatic alveolar echinococcosis have been continuously enriched, and the selection of surgical procedures has become increasingly diversified. Although key surgical techniques such as radical hepatectomy, autologous liver transplantation and allogeneic liver transplantation have achieved remarkable progress in clinical application, many insurmountable challenges still remain. Therefore, by sorting out the latest evidence-based advances in the field of surgical treatment for hepatic alveolar echinococcosis, this article focuses on discussing the application status and bottlenecks of radical hepatectomy, autologous liver transplantation and allogeneic liver transplantation in hepatic alveolar echinococcosis, aiming to provide a reference for the clinical treatment of hepatic alveolar echinococcosis.
2.Comparison of sleep EEG power spectral density between depressive episode patients and schizophrenia patients with suicidal behavior
Jingwen LIU ; Yunfei ZHOU ; Jingchu HU ; Jiaoyan ZHOU ; Junwei YANG ; Jie LIANG ; Hong XU ; Yu CANG ; Shimeng MA
Sichuan Mental Health 2026;39(1):50-57
BackgroundPatients with depressive episode and schizophrenia have a high risk of suicide. The sleep electroencephalogram power spectral density characteristics of patients with depressive episode accompanied by suicidal behavior and those with schizophrenia may be different, but there is currently a lack of direct comparative studies on these two groups of patients. ObjectiveTo compare the sleep electroencephalogram power spectral density between depressive episode and schizophrenic patients with suicidal behavior, in order to provide references for exploring predictive indicators of suicidal behavior. MethodsFrom June 2018 to December 2020, 20 patients with depressive episode and 20 patients with schizophrenia who had committed suicide within the past month and were treated at the outpatient department of Shenzhen Kangning Hospital were selected. All of them met the diagnostic criteria for depressive episode or schizophrenia as defined in the International Classification of Diseases, tenth edition (ICD-10). Using a random sampling method, 20 volunteers with matching gender and age to the patient groups were selected from the Cuiping community in Shenzhen as the control group. The subjective sleep of the patients was evaluated using the Insomnia Severity Index (ISI), the Dysfunctional Belief and Attitude about Sleep (DBAS), the Disturbing Dreams and Nightmare Severity Index (DDNSI), and the Epworth Somnolence Scale (ESS). The objective sleep of the patients was assessed using polysomnography. The sleep electroencephalogram was filtered and the power spectral density of the brain wave was analyzed and processed for all the subjects. The subjective and objective sleep conditions of the two patient groups were compared, and the sleep electroencephalogram power spectral density of the patient groups and the control group were also compared. ResultsA comparison of subjective and objective sleep conditions between patients with depressive episode accompanied by suicidal behavior and patients with schizophrenia accompanied by suicidal behavior showed no statistically significant differences (P>0.05). Comparisons of sleep electroencephalogram power spectral density in the W stage (average power of α wave, total power of δ wave, average power of δ wave, average power of θ wave), N1 stage (average power of β wave, total power of α wave, total power of δ wave), N2 stage (total power of α wave, average power of α wave, total power of δ wave, average power of δ wave), N3 stage (average power of α wave, average power of δ wave), and R stage (total power of α wave, average power of α wave, total power of δ wave, average power of δ wave) between patients with depressive episode accompanied by suicidal behavior, patients with schizophrenia accompanied by suicidal behavior, and the control group showed statistically significant differences (P<0.05 or 0.01). The total power of δ wave in the W stage and the average power of β wave and δ wave in the N1 stage were higher in two patient groups were higher than those of the control group. The total power of α wave and the average power of α wave in the N2 stage were lower than those of the control group, while the average power of δ wave was higher than that of the control group. The average power of α wave in the N3 stage of both patient groups were lower than that of the control group, while the average power of δ wave was higher than that of the control group. The total power and average power of α wave in the R stage were lower than those of the control group, while the total power and average power of δ wave were higher than those of the control group. All the differences were statistically significant. Patients with depressive episode accompanied by suicidal behavior had higher average powers of α wave, δ wave, and θ wave in the W stage compared with the control group, while the total power of α wave in the N1 stage was lower in the former group. All these differences were statistically significant (P<0.05). ConclusionThe depressive episode patients accompanied by suicidal behavior have highly overlapping sleep electroencephalogram abnormal patterns with those of schizophrenia patients, mainly manifested as a general decrease in α wave power (N2, N3, R stage) and a general increase in δ wave power (W, N1, N2, N3, R stage) as well as β wave power in N1 stage. At the same time, patients with depressive episode accompanied by suicidal behavior also show specific changes, including an increase in the average power of α and θ waves during the wakefulness period (W stage), and a decrease in the total power of α wave in N1 stage. [Funded by Guangdong Province High-level Clinical Key Specialty (with supporting funds from Shenzhen City) (number, SZGSP013); Shenzhen Key Medical Discipline (number, SZXK041); Shenzhen Clinical Medicine Research Center Project (number, 20210617155253001)]
3.Linagliptin synergizes with cPLA2 inhibition to enhance temozolomide efficacy by interrupting DPP4-mediated EGFR stabilization in glioma.
Dongyuan SU ; Biao HONG ; Shixue YANG ; Jixing ZHAO ; Xiaoteng CUI ; Qi ZHAN ; Kaikai YI ; Yanping HUANG ; Jiasheng JU ; Eryan YANG ; Qixue WANG ; Junhu ZHOU ; Yunfei WANG ; Xing LIU ; Chunsheng KANG
Acta Pharmaceutica Sinica B 2025;15(7):3632-3645
The polymerase 1 and transcript release factor (PTRF)-cytoplasmic phospholipase A2 (cPLA2) phospholipid remodeling pathway facilitates tumor proliferation in glioma. Nevertheless, blockade of this pathway leads to the excessive activation of oncogenic receptors on the plasma membrane and subsequent drug resistance. Here, CD26/dipeptidyl peptidase 4 (DPP4) was identified through screening of CRISPR/Cas9 libraries. Suppressing PTRF-cPLA2 signaling resulted in the activation of the epidermal growth factor receptor (EGFR) pathway through phosphatidylcholine and lysophosphatidylcholine remodeling, which ultimately increased DPP4 transcription. In turn, DPP4 interacted with EGFR and prevented its ubiquitination. Linagliptin, a DPP4 inhibitor, facilitated the degradation of EGFR by blocking its interaction with DPP4. When combined with the cPLA2 inhibitor AACOCF3, it exhibited synergistic effects and led to a decrease in energy metabolism in glioblastoma cells. Subsequent in vivo investigations provided further evidence of a synergistic impact of linagliptin by augmenting the sensitivity of AACOCF3 and strengthening the efficacy of temozolomide. DPP4 serves as a novel target and establishes a constructive feedback loop with EGFR. Linagliptin is a potent inhibitor that promotes EGFR degradation by blocking the DPP4-EGFR interaction. This study presents innovative approaches for treating glioma by combining linagliptin with AACOCF3 and temozolomide.
4.Research progresses on the mechanism of macrophages in tendon bone healing.
Liang WANG ; Yinshuan DENG ; Tao QU ; Chaoming DA ; Yunfei HE ; Rui LIU ; Weimin NIU ; Weishun YAN ; Zhen CHEN ; Shuo LI ; Zhiyun YANG ; Binbin GUO ; Xueqian LAI
Chinese Journal of Cellular and Molecular Immunology 2025;41(2):183-187
The connection between tendons and bones is called the tendon bone connection. With the continuous improvement of national sports awareness, excessive exercises and the related intensity are prone to damage the tendon bone connection. Tendon bone healing is a complex repair and healing process involving multiple factors, and good tendon bone healing is a prerequisite for its physiological function. The complexity of tendon bone structure also poses great challenges to the repair of tendon bone injuries. In recent years, researches have found that stem cells, growth factors, macrophages, and other factors are closely related to the healing process of tendon bone injuries, among which macrophages play an important role in the healing process. The authors reviewed relevant research literature in recent years and summarized the role of macrophages in tendon bone healing, in order to provide new ideas and directions for treatment strategies to promote tendon bone healing.
Humans
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Macrophages/metabolism*
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Wound Healing
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Animals
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Tendons/physiology*
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Bone and Bones/injuries*
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Tendon Injuries
5.A Case of Metastatic Non-small Cell Lung Cancer with Rare BRAF p.L485_T488delinsF Mutation Treated with Dabrafenib and Trametinib.
Yunfei WANG ; Wen ZHAO ; Chuang YANG ; Rongyu ZHANG ; Chengjun WANG ; Chunyan HAN ; Jisheng LI
Chinese Journal of Lung Cancer 2025;28(8):638-643
The v-Raf murine sarcoma viral oncogene homolog B (BRAF) gene is one of the most critical proto-oncogenes and functions as a key regulator in the mitogen-activated protein kinase (MAPK)/extracellular signal-regulated kinase (ERK) signaling pathway. The incidence of BRAF mutations in non-small cell lung cancer (NSCLC) patients ranges from 1.5% to 5.5%, with BRAF V600 mutations accounting for approximately 30%-50% of all BRAF mutations, among which BRAF V600E represents the most prevalent mutation type. Currently, the combination of Dabrafenib and Trametinib has been recommended as first-line therapy for BRAF V600-mutant NSCLC by multiple domestic and international guidelines including National Comprehensive Cancer Network (NCCN), European Society of Medical Oncology (ESMO), and Chinese Society of Clinical Oncology (CSCO). However, there are no clear targeted treatment recommendations for BRAF non-V600 mutations. Although case reports suggest that Dabrafenib combined with Trametinib may be effective for patients with BRAF non-V600 mutations, the efficacy and safety require further validation due to limited sample size and lack of large-scale clinical trial data. This article reports a case of NSCLC with a rare BRAF insertion and deletion mutation that responded well to the treatment of Dabrafenib in combination with Trametinib, aiming to enhance clinicians' understanding of such NSCLC cases with extremely rare mutation and provide a reference for future treatment strategies.
.
Humans
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Carcinoma, Non-Small-Cell Lung/pathology*
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Imidazoles/administration & dosage*
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Lung Neoplasms/pathology*
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Mutation
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Neoplasm Metastasis
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Oximes/administration & dosage*
;
Proto-Oncogene Mas
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Proto-Oncogene Proteins B-raf/genetics*
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Pyridones/administration & dosage*
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Pyrimidinones/administration & dosage*
6.Study on characteristics and drug resistance of neonatal sepsis caused by different pathogenic bacteria
Yunfei GAO ; Shuhua ZHAO ; Ruilai LIU ; Xufang LI ; Zitian WANG ; Yue ZHANG ; Hong SHA ; Jing HE ; Xiaoyu YANG ; Na WU
International Journal of Pediatrics 2025;52(3):211-216
Objective:To investigate the differences in clinical characteristics and antibiotic resistance of neonatal sepsis(NS)caused by different Gram-staining pathogens.Methods:A retrospective study was conducted on confirmed NS cases admitted to the Neonatal Ward of the Pediatric Department at The First Affiliated Hospital of Dali University,from June 1,2014,to May 31,2024.Patients were divided into Gram-positive and Gram-negative groups based on blood or cerebrospinal fluid(CSF)culture results.Clinical characteristics,pathogen distribution,and antibiotic resistance were compared between the two groups.Results:A total of 98 cases were included,with 81 in the Gram-positive group and 17 in the Gram-negative group.Multivariate logistic regression analysis revealed that NS cases with a high neutrophil percentage( OR=0.933,95% CI:0.899-0.969)or hemorrhagic symptoms/signs( OR=0.059,95% CI:0.008-0.458)were less likely to have Gram-positive pathogens detected in blood or CSF cultures( P<0.05).Common Gram-positive pathogens included Staphylococcus epidermidis with 35 strains(33.65%)and Staphylococcus hominis with 22 strains(21.15%).The predominant Gram-negative pathogen was Escherichia coli with 14 strains(13.46%).Gram-positive pathogens exhibited high resistance to oxacillin(91.30%),erythromycin(90.91%),and penicillin G(90.00%),but low resistance to tigecycline(0),linezolid(0),and vancomycin(0).Gram-negative pathogens showed high resistance to ampicillin(92.31%),cefazolin(90.00%),and ampicillin/sulbactam(75.00%),but low resistance to amikacin(6.25%),latamoxef(0),and ertapenem(0).The incidence of concurrent purulent meningitis was lower in the Gram-positive group than in the Gram-negative group(9.88% vs.47.06%, χ2=11.628, P<0.05),and there was significant difference. Conclusion:NS cases with high neutrophil percentages or hemorrhagic symptoms/signs are less likely to be caused by Gram-positive pathogens.Staphylococcus epidermidis and Staphylococcus hominis are common Gram-positive pathogens,while Escherichia coli is the predominant Gram-negative pathogen in NS.Both Gram-positive and Gram-negative pathogens exhibit resistance to specific antibiotics.NS caused by Gram-positive pathogens is less likely to be complicated by purulent meningitis compared to those caused by Gram-negative pathogens.
7.Relationship between serum circ_PTP4A2 and circ_PDS5B levels and the volume of cerebral infarction and degree of neurological deficit in patients with AIS
Yunfei ZHU ; Chuan YUAN ; Shaokun HE ; Song SU ; Yunchuan YANG ; Biwen SUN ; Feng GAO
International Journal of Laboratory Medicine 2025;46(12):1437-1443
Objective To investigate the relationship between the levels of serum circular RNA protein tyrosine phosphatase 4A2(circ_PTP4A2),circular RNA precocious dissociation of sisters 5 homolog B(circ_PDS5B)and the volume of cerebral infarction and the degree of neurological deficits in patients with acute is-chemic stroke(AIS).Methods Ninety patients with AIS who visited the hospital from January 2021 to De-cember 2023 were selected as the AIS group,and 90 healthy individuals who underwent physical examinations during the same period were selected as the control group.The levels of serum circ_PTP4A2 and circ_PDS5B were detected by real-time fluorescence quantitative PCR,the volume of cerebral infarction was measured by magnetic resonance diffusion tensor imaging,and the degree of neurological deficit was evaluated by the Na-tional Institutes of Health Stroke Scale(NIHSS)score.According to the volume of cerebral infarction,they were divided into large-volume group(volume of cerebral infarction≥ 20 cm3,29 cases),medium-volume group(1 cm3<volume of cerebral infarction<20 cm3,34 cases),and small-volume group(volume of cerebral infarction≤ 1 cm3,27 cases),and according to the NIHSS scores,patients with AIS were classified into the se-vere group(NIHSS scores≥21 points,27 cases),the moderate group(NIHSS scores 5-20 points,32 cases)and the mild group(NIHSS score≤ 4 points,31 cases).Factors contributing to the increased volume of cere-bral infarction and the increased degree of neurological deficit in patients with AIS were analyzed by ordered multi-categorical Logistic regression.Results Compared with the control group,serum circ_PTP4A2 and circ_PDS5B levels were elevated in the AIS group(P<0.05).Serum circ_PTP4A2 and circ_PDS5B levels were sequentially increased in the small-volume group,medium-volume group,and large-volume group(P<0.05).Serum circ_PTP4A2 and circ_PDS5B levels were sequentially increased in the mild group,moderate group,and severe group(P<0.05).Ordered multi-categorical Logistic regression showed that high NIHSS score,high circ_PTP4A2,and high circ_PDS5B were independent risk factors for increased cerebral infarction volume in AIS patients(P<0.05),and high cerebral infarction volume,high circ_PTP4A2,and high circ_PDS5B were independent risk factors(P<0.05).Conclusion The elevated levels of serum circ_PTP4A2 and circ_PDS5B in AIS patients are related to the increase in cerebral infarction volume and the aggravation of neurological deficits.Early detection of serum circ_PTP4A2 and circ_PDS5B levels is helpful for risk stratification in AIS patients.
8.Diversity of the Duffy blood group gene among ethnic Hui population in Henan Province.
Wenyan CUI ; Hecai YANG ; Cunquan KONG ; Yongkui KONG ; Yunfei YOU ; Yujing LIU ; Jinhua LIU ; Maocai CHEN ; Yulin ZHANG
Chinese Journal of Medical Genetics 2025;42(3):274-281
OBJECTIVE:
To analyze the diversity of Duffy blood group gene among ethnic Hui population from Henan Province using PacBio long-read sequencing technique.
METHODS:
Randomly select 30 individuals with three generations of Hui ancestry from Henan as the study subjects. Full-length sequences of the Duffy blood group gene were obtained through PacBio long-read sequencing. Distribution of the predicted phenotype and genotype frequency were determined, and the linkage between Duffy haplotypes and variation sites was analyzed. Genetic diversity, natural selection pressure, and population genetic characteristics were evaluated. This study was approved by the Second Affiliated Hospital of Zhengzhou University (Ethics No. 2022223).
RESULTS:
The predicted Duffy blood group phenotype in the Henan Hui population was predominantly Fy(a+b-). Three novel SNPs in the FY*01 allele were identified, with a total frequency of 13.33%, among which FY*01.NEW1 (c.199C>T) was the most common. A total of 32 variant sites were identified, with 28 located in intronic regions, indicating that genetic diversity was primarily concentrated in introns. The Duffy blood group gene was under negative selection pressure (dN/dS < 1, Tajima's D, Fu and Li's D* and F* significantly deviated from 0), suggesting overall conservation. The allele frequencies of Duffy blood group in the Henan Hui population was similar to that of the Xinjiang Hui, Xinjiang Kazakh, Inner Mongolia Mongolian, and Yuncheng Han populations, but significantly different from those of most Han and other ethnic groups (P < 0.05).
CONCLUSION
This study revealed the characteristics of the Duffy blood group gene among the Henan Hui population and demonstrated the significant advantages of PacBio long-read sequencing technique in haplotype analysis, genetic diversity study, and novel mutation identification.
Female
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Humans
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Male
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Asian People/ethnology*
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China/ethnology*
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Duffy Blood-Group System/genetics*
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Ethnicity/genetics*
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Gene Frequency
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Genetic Variation
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Haplotypes
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Polymorphism, Single Nucleotide
9.Comparative efficacy of laminoplasty via intermuscular approach or posterior midline approach for cervical spinal cord injury without radiographic abnormality: a multi-center retrospective study
Yunfei HUANG ; Shuai LI ; Jinpeng DU ; Baorong HE ; Yanzheng GAO ; Wei MEI ; Shibao LU ; Zhigan ZHAO ; Liang YAN ; Xiaobin YANG ; Yuan HE ; Zhen CHANG
Chinese Journal of Trauma 2025;41(7):635-644
Objective:To compare the efficacy of laminoplasty via the intermuscular approach or posterior midline approach for treating spinal cord injury without radiographic abnormality (SCIWORA).Methods:A multi-center retrospective cohort study was conducted to analyze the clinical data of 135 patients with SCIWORA admitted to Honghui Hospital Affiliated to Xi'an Jiaotong University School of Medicine, Xi'an No.5 Hospital, Henan Provincial People's Hospital, Zhengzhou Orthopedic Hospital, Xuanwu Hospital of Capital Medical University from February 2021 to June 2023, including 75 males and 60 females, aged 35-78 years [(55.3±8.1)years]. The injury segments involved C 3-C 6. All the patients underwent posterior cervical open-door laminoplasty, among whom 70 patients were treated via the intermuscular approach (intermuscular group) and 65 via the posterior midline approach (posterior midline group). The operation duration, intraoperative blood loss, postoperative drainage volume, and length of hospital stay were recorded. The visual analogue scale (VAS) score, Japanese Orthopedic Association (JOA) score, neck disability index (NDI), Barthel index, cervical Cobb angle, and cervical range of motion (ROM) were measured preoperatively, at 3, 6, 12 months postoperatively and at the final follow-up. The American Spinal Injury Association (ASIA) scale was evaluated preoperatively, at 3, 12 months postoperatively and at the final follow-up. The postoperative complication rate was recorded as well. Results:All the patients were followed up for 15-19 months [(16.3±1.6)months]. The operation duration, intraoperative blood loss, postoperative drainage and length of hospital stay were (125.0±23.0)minutes, (210.4±34.8)ml, and (165.3±23.7)ml, and (5.3±0.1)days in the intermuscular group, which were significantly shorter or less than (168.0±27.6)minutes, (260.2±45.3)ml, (196.4±31.6)ml, and (6.4±0.2)days in the posterior midline group ( P<0.01). The preoperative VAS score, JOA score, NDI and Barthel index showed no significant differences between the two groups ( P>0.05). The VAS score and JOA score also showed no significant differences between the two groups at 3, 6, 12 months postoperatively or at the final follow-up ( P>0.05). The NDI and Barthel index also showed no significant differences between the two groups at 3 months postoperatively ( P>0.05). At 6, 12 months postoperatively and at the final follow-up, the NDI were (15.4±2.5)points, (11.8±2.1)points and (8.6±1.5)points in the intermuscular group, significantly lower than (19.1±3.4)points, (14.3±2.4)points and (11.9±1.4)points in the posterior midline group ( P<0.01). At 6, 12 months postoperatively and at the final follow-up, the Barthel index were (71.4±6.2)points, (83.4±5.8)points and (89.2±7.1)points in the intermuscular group, significantly higher than (59.6±4.7)points, (74.2±3.9)points and (78.8±6.2)points in the posterior midline group ( P<0.01). Both groups showed significant improvements in VAS score, JOA score, NDI and Barthel index at 3, 6, 12 months postoperatively and at the final follow-up when compared to those preoperatively ( P<0.05). Among them, the VAS score, NDI and Barthel index were further improved over time ( P<0.05). Simultaneously, the JOA score was significantly improved at 6, 12 months postoperatively and at the last follow-up when compared to that at 3 months postoperatively ( P<0.05), with no significant difference at later time points between the two groups ( P>0.05). The preoperative cervical Cobb angle and ROM showed no significant differences between the two groups ( P>0.05). There was no significant difference in the Cobb angle between the two groups at 3, 6 or 12 months postoperatively ( P>0.05), while it was (13.6±2.4)° in the intermuscular group at the final follow-up, significantly larger than (10.4±2.8)° in the posterior midline group ( P<0.01). At 3, 6, 12 months postoperatively and at the final follow-up, the cervical ROM were (34.1±6.4)°, (32.6±7.3)°, (31.8±9.1)° and (29.6±8.7)° in the intermuscular group, significantly larger than (23.7±8.3)°, (22.3±7.8)°, (22.5±8.1)° and (20.6±9.3)° in the posterior midline group ( P<0.01). In the intermuscular group, the cervical Cobb angle showed no significant changes at 3, 6, 12 months postoperatively and at the final follow-up when compared to those preoperatively ( P>0.05). In the posterior midline group, the Cobb angles were significantly reduced at 3, 6, 12 months postoperatively and at the final follow-up when compared to those preoperatively ( P<0.05), showing significant decrease at 12 months postoperatively and at the final follow-up from those at 3, 6 months postoperatively ( P<0.05), no significant difference at 6 months postoperatively from that at 3 months postoperatively ( P>0.05), and significant decrease at the final follow-up from that at 12 months postoperatively ( P>0.05). In the intermuscular group, the cervical ROM were significantly improved at 3, 6, 12 months postoperatively and at the final follow-up when compared to those preoperatively and showed further improvement over time ( P<0.05). In the posterior midline group, the cervical ROM were significantly improved at 3, 6, 12 months postoperatively and at the final follow-up when compared to those preoperatively ( P<0.05), showing significant decreases at 6, 12 months postoperatively and at the final follow-up from that at 3 months postoperatively ( P<0.05), significant decreases at the final follow-up from those at 6, 12 months postoperatively ( P<0.05), and no significant difference at 12 months postoperatively from that at 6 months postoperatively ( P>0.05). The ASIA grades showed no significant difference between the two groups preoperatively, at 3, 12 months postoperatively and at the final follow-up ( P>0.05) , but were gradually improved over time in both groups ( P<0.05). The postoperative complication rate was 9%(6/70) in the intermuscular group, significantly lower than 48%(31/65) in the posterior midline group ( P<0.01). Conclusion:Compared to the posterior midline approach, the intermuscular approach for laminoplasty in patients with SCIWORA possesses advantages, including shorter operative time and length of hospital stay, reduced intraoperative blood loss and postoperative drainage, less postoperative neck disability, higher daily life quality, better long-term preservation of cervical lordosis and motion, and a lower complication rate.
10.Diversity of the Duffy blood group gene among ethnic Hui population in Henan Province
Wenyan CUI ; Hecai YANG ; Cunquan KONG ; Yongkui KONG ; Yunfei YOU ; Yujing LIU ; Jinhua LIU ; Maocai CHEN ; Yulin ZHANG
Chinese Journal of Medical Genetics 2025;42(3):274-281
Objective:To analyze the diversity of Duffy blood group gene among ethnic Hui population from Henan Province using PacBio long-read sequencing technique.Methods:Randomly select 30 individuals with three generations of Hui ancestry from Henan as the study subjects. Full-length sequences of the Duffy blood group gene were obtained through PacBio long-read sequencing. Distribution of the predicted phenotype and genotype frequency were determined, and the linkage between Duffy haplotypes and variation sites was analyzed. Genetic diversity, natural selection pressure, and population genetic characteristics were evaluated. This study was approved by the Medical Ethics Committee of the Second Affiliated Hospital of Zhengzhou University (Ethics No. 202223).Results:The predicted Duffy blood group phenotype in the Henan Hui population was predominantly Fy(a+ b-). Three novel SNPs in the FY*01 allele were identified, with a total frequency of 13.33%, among which FY*01.NEW1 (c.199C>T) was the most common. A total of 32 variant sites were identified, with 28 located in intronic regions, indicating that genetic diversity was primarily concentrated in introns. The Duffy blood group gene was under negative selection pressure ( dN/ dS < 1, Tajima′s D, Fu and Li′s D*& F* significantly deviated from 0), suggesting overall conservation. The allele frequencies of Duffy blood group in the Henan Hui population was similar to that of the Xinjiang Hui, Xinjiang Kazakh, Inner Mongolia Mongolian, and Yuncheng Han populations, but significantly different from those of most Han and other ethnic groups ( P<0.05). Conclusion:This study revealed the characteristics of the Duffy blood group gene among the Henan Hui population and demonstrated the significant advantages of PacBio long-read sequencing technique in haplotype analysis, genetic diversity study, and novel mutation identification.

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