1.Application of domestic single-port robotic surgical system in thyroid cancer.
Qian MA ; Sicheng ZHANG ; Longyue ZHANG ; Jinyuan LIU ; Ronghao SUN ; Yuqiu ZHOU ; Linjie MA ; Chunyan SHUI ; Yongcong CAI ; Chao LI
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(11):1044-1047
Objective:To explore the feasibility and preliminary efficacy of domestic single-port robotic surgical system in the surgical treatment of thyroid cancer. Methods:Thyroid cancer patients who underwent domestic single-port robotic surgery in the Department of Head and Neck Surgery of Sichuan Cancer Hospital from June 2024 to January 2025 were prospectively included. Clinical data, oncological characteristics, and perioperative indicators were systematically collected. Results:A total of 7 patients were included, including 3 males and 4 females, with an age of (34.57±10.26) years. All procedures were successfully completed without conversion to open surgery. Operative time was(180.00±30.41) minutes. Blood loss was(5.00[15.00 ])mL. Postoperative drainage volume was (167.86±130.95) mL. The postoperative pathological results were all thyroid papillary carcinoma. There were no system failures, no device-related complications and adverse events were observed during the operation and perioperative period. No tumor recurrence or metastasis was observed during the follow-up period. Conclusion:Preliminary data indicate that the domestic single-port robotic surgical system is safe and feasible for the surgical treatment of thyroid cancer, providing a practical basis for subsequent multi-disease, multi-center, and large-sample studies.
Humans
;
Thyroid Neoplasms/surgery*
;
Robotic Surgical Procedures/instrumentation*
;
Male
;
Female
;
Adult
;
Thyroidectomy/methods*
;
Operative Time
;
Middle Aged
;
Prospective Studies
2.SAE1 promotes tumor cell malignancy via SUMOylation and liquid-liquid phase separation facilitated nuclear export of p27.
Ling WANG ; Jie MIN ; Jinjun QIAN ; Xiaofang HUANG ; Xichao YU ; Yuhao CAO ; Shanliang SUN ; Mengying KE ; Xinyu LV ; Wenfeng SU ; Mengjie GUO ; Nianguang LI ; Shiqian QI ; Hongming HUANG ; Chunyan GU ; Ye YANG
Acta Pharmaceutica Sinica B 2025;15(4):1991-2007
Most cancers are currently incurable, partly due to abnormal post-translational modifications (PTMs). In this study, we initially used multiple myeloma (MM) as a working model and found that SUMOylation activating enzyme subunit 1 (SAE1) promotes the malignancy of MM. Through proteome microarray analysis, SAE1 was identified as a potential target for bioactive colcemid or its derivative colchicine. Elevated levels of SAE1 were associated with poor clinical survival and increased MM proliferation in vitro and in vivo. Additionally, SAE1 directly SUMOylated and upregulated the total protein expression of p27, leading to LLPS-mediated nuclear export of p27. Our study also demonstrated the involvement of SAE1 in other types of cancer cells, and provided the first monomer crystal structure of SAE1 and its key binding model with colchicine. Colchicine also showed promising results in the Patient-Derived Tumor Xenograft (PDX) model. Furthermore, a controlled clinical trial with 56 MM patients demonstrated the clinical efficacy of colchicine. Our findings reveal a novel mechanism by which tumor cells evade p27-induced cellular growth arrest through p27 SUMOylation-mediated nuclear export. SAE1 may serve as a promising therapeutic target, and colchicine may be a potential treatment option for multiple types of cancer in clinical settings.
3.Analysis of emergency sample testing time of the VITROS XT 3400 biochemical testing system
Qian DAI ; Kouqiong WANG ; Chunyan ZHANG ; Beili WANG ; Baishen PAN ; Wei GUO
Chinese Journal of Laboratory Medicine 2024;47(5):570-573
Objective:To analyze the emergency sample testing time of VITROS XT 3400 biochemical testing system and evaluate its testing method.Method:Retrospective analysis was conducted on all specimens from the emergency laboratory department of our hospital from August 2020 to July 2022, including albumin(Alb), total protein(TP), aspartate amino transferase(AST), alanine aminotransferase(ALT), creatinine (Cr), blood Urea Nitrogen(BUN), calcium (Ca) and glucose (Glu) to calculate the utilization rate of composite dry slide projects. A total of 635 serum samples were collected from emergency patients in our hospital from June 20 to 26, 2022, and the difference in sample testing time was compared between VITROS XT 3400 (composite dry tablets) group and VITROS 4600 (ordinary dry tablets) group during low and peak periods. The difference in replacement reagent and daily maintenance time was also compared between the two groups.Result:The pairing rates of three projects (Alb-TP, AST-ALT, Cr-BUN) are all over 99%. The detection time of the VITROS XT 3400 group samples was significantly shorter than that of the VITROS 4600 group [(945±477) s compared to (1 101±567) s, t=20.378, P<0.001]. The detection time of the VITROS XT 3400 group samples during high and low peak periods was significantly shorter than that of the VITROS 4600 group [low peak period ( n=322): (857±567) s compared to (905±528) s, t=13.102, P<0.001; peak period ( n=313): (1 035±400) s compared to (1 303±492) s, t=21.876, P<0.001], The reagent replacement time of the VITROS XT 3400 group was significantly shorter than that of the VITROS 4600 group [(690±127) s vs (869±152) s, t=11.470, P<0.001]. There was no statistically significant difference in daily maintenance time between the VITROS XT 3400 group and the VITROS 4600 group [(1 771±123) s vs (1 765±95) s, t=0.238, P=0.834]. Conclusion:XT 3400 has faster detection speed when using the composite dry slides, which can better alleviate the detection pressure during peak hours.
4.Treatment status of tyrosine kinase inhibitor for newly-diagnosed chronic myeloid leukemia: a domestic multi-centre retrospective real-world study
Xiaoshuai ZHANG ; Bingcheng LIU ; Xin DU ; Yanli ZHANG ; Na XU ; Xiaoli LIU ; Weiming LI ; Hai LIN ; Rong LIANG ; Chunyan CHEN ; Jian HUANG ; Yunfan YANG ; Huanling ZHU ; Ling PAN ; Xiaodong WANG ; Guohui LI ; Zhuogang LIU ; Yanqing ZHANG ; Zhenfang LIU ; Jianda HU ; Chunshui LIU ; Fei LI ; Wei YANG ; Li MENG ; Yanqiu HAN ; Li'e LIN ; Zhenyu ZHAO ; Chuanqing TU ; Caifeng ZHENG ; Yanliang BAI ; Zeping ZHOU ; Suning CHEN ; Huiying QIU ; Lijie YANG ; Xiuli SUN ; Hui SUN ; Li ZHOU ; Zelin LIU ; Danyu WANG ; Jianxin GUO ; Liping PANG ; Qingshu ZENG ; Xiaohui SUO ; Weihua ZHANG ; Yuanjun ZHENG ; Qian JIANG
Chinese Journal of Hematology 2024;45(3):215-224
Objective:To retrospectively analyze the treatment status of tyrosine kinase inhibitors (TKI) in newly diagnosed patients with chronic myeloid leukemia (CML) in China.Methods:Data of chronic phase (CP) and accelerated phase (AP) CML patients diagnosed from January 2006 to December 2022 from 77 centers, ≥18 years old, and receiving initial imatinib, nilotinib, dasatinib or flumatinib-therapy within 6 months after diagnosis in China with complete data were retrospectively interrogated. The choice of initial TKI, current TKI medications, treatment switch and reasons, treatment responses and outcomes as well as the variables associated with them were analyzed.Results:6 893 patients in CP ( n=6 453, 93.6%) or AP ( n=440, 6.4%) receiving initial imatinib ( n=4 906, 71.2%), nilotinib ( n=1 157, 16.8%), dasatinib ( n=298, 4.3%) or flumatinib ( n=532, 7.2%) -therapy. With the median follow-up of 43 ( IQR 22-75) months, 1 581 (22.9%) patients switched TKI due to resistance ( n=1 055, 15.3%), intolerance ( n=248, 3.6%), pursuit of better efficacy ( n=168, 2.4%), economic or other reasons ( n=110, 1.6%). The frequency of switching TKI in AP patients was significantly-higher than that in CP patients (44.1% vs 21.5%, P<0.001), and more AP patients switched TKI due to resistance than CP patients (75.3% vs 66.1%, P=0.011). Multi-variable analyses showed that male, lower HGB concentration and ELTS intermediate/high-risk cohort were associated with lower cytogenetic and molecular responses rate and poor outcomes in CP patients; higher WBC count and initial the second-generation TKI treatment, the higher response rates; Ph + ACA at diagnosis, poor PFS. However, Sokal intermediate/high-risk cohort was only significantly-associated with lower CCyR and MMR rates and the poor PFS. Lower HGB concentration and larger spleen size were significantly-associated with the lower cytogenetic and molecular response rates in AP patients; initial the second-generation TKI treatment, the higher treatment response rates; lower PLT count, higher blasts and Ph + ACA, poorer TFS; Ph + ACA, poorer OS. Conclusion:At present, the vast majority of newly-diagnosed CML-CP or AP patients could benefit from TKI treatment in the long term with the good treatment responses and survival outcomes.
5.Analysis of 45 elements in Fufang Xiling Jiedu preparation based on ICP-MS and multivariate statistic method
Chunyan BI ; Jianqiao XUE ; Qian ZHU ; Yantao SUN
China Pharmacist 2024;27(5):762-771
Objective To determine and analyze the content of 45 inorganic elements in Fufang Xiling Jiedu preparation and to provide a reference for the safety detection of Fufang Xiling Jiedu preparation.Methods Inductively coupled plasma mass spectrometry(ICP-MS)was used to ascertain the concentrations of 45 inorganic elements,including Li,B,Al,K,Zn and As from 16 batches of Fufang Xiling Jiedu preparation which were gathered.The content determination findings were plotted as heatmaps,Pearson correlation analysis plot,PCA scatter plots,fingerprints,and control maps.The Pearson correlation analysis and PCA analysis were performed on the content determination results of 16 batches using SPSS 21.0,to evaluate the safety and quality uniformity of Fufang Xiling Jiedu preparation.Results The inorganic elements in Fufang Xiling Jiedu preparation were dominated by K and Ca.The content of different elements in the sample could be categorised into 5 levels.The content of various elements in different batches of Fufang Xiling Jiedu preparation was similar.Pb,Cd,As,Hg and Cu were all within the safety limit as those specified in the Chinese Pharmacopoeia.Co,Y,Sm,Gd,Dy,Th,Al,Si,Fe,Sb and Tl were the characteristic inorganic elements of Fufang Xiling Jiedu preparation.Conclusion This method is easy to operate and suitable for the determination of inorganic elements in Fufang Xiling Jiedu preparation,providing references for the clinical medication safety.
6.Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients (version 2024)
Yao LU ; Yang LI ; Leiying ZHANG ; Hao TANG ; Huidan JING ; Yaoli WANG ; Xiangzhi JIA ; Li BA ; Maohong BIAN ; Dan CAI ; Hui CAI ; Xiaohong CAI ; Zhanshan ZHA ; Bingyu CHEN ; Daqing CHEN ; Feng CHEN ; Guoan CHEN ; Haiming CHEN ; Jing CHEN ; Min CHEN ; Qing CHEN ; Shu CHEN ; Xi CHEN ; Jinfeng CHENG ; Xiaoling CHU ; Hongwang CUI ; Xin CUI ; Zhen DA ; Ying DAI ; Surong DENG ; Weiqun DONG ; Weimin FAN ; Ke FENG ; Danhui FU ; Yongshui FU ; Qi FU ; Xuemei FU ; Jia GAN ; Xinyu GAN ; Wei GAO ; Huaizheng GONG ; Rong GUI ; Geng GUO ; Ning HAN ; Yiwen HAO ; Wubing HE ; Qiang HONG ; Ruiqin HOU ; Wei HOU ; Jie HU ; Peiyang HU ; Xi HU ; Xiaoyu HU ; Guangbin HUANG ; Jie HUANG ; Xiangyan HUANG ; Yuanshuai HUANG ; Shouyong HUN ; Xuebing JIANG ; Ping JIN ; Dong LAI ; Aiping LE ; Hongmei LI ; Bijuan LI ; Cuiying LI ; Daihong LI ; Haihong LI ; He LI ; Hui LI ; Jianping LI ; Ning LI ; Xiying LI ; Xiangmin LI ; Xiaofei LI ; Xiaojuan LI ; Zhiqiang LI ; Zhongjun LI ; Zunyan LI ; Huaqin LIANG ; Xiaohua LIANG ; Dongfa LIAO ; Qun LIAO ; Yan LIAO ; Jiajin LIN ; Chunxia LIU ; Fenghua LIU ; Peixian LIU ; Tiemei LIU ; Xiaoxin LIU ; Zhiwei LIU ; Zhongdi LIU ; Hua LU ; Jianfeng LUAN ; Jianjun LUO ; Qun LUO ; Dingfeng LYU ; Qi LYU ; Xianping LYU ; Aijun MA ; Liqiang MA ; Shuxuan MA ; Xainjun MA ; Xiaogang MA ; Xiaoli MA ; Guoqing MAO ; Shijie MU ; Shaolin NIE ; Shujuan OUYANG ; Xilin OUYANG ; Chunqiu PAN ; Jian PAN ; Xiaohua PAN ; Lei PENG ; Tao PENG ; Baohua QIAN ; Shu QIAO ; Li QIN ; Ying REN ; Zhaoqi REN ; Ruiming RONG ; Changshan SU ; Mingwei SUN ; Wenwu SUN ; Zhenwei SUN ; Haiping TANG ; Xiaofeng TANG ; Changjiu TANG ; Cuihua TAO ; Zhibin TIAN ; Juan WANG ; Baoyan WANG ; Chunyan WANG ; Gefei WANG ; Haiyan WANG ; Hongjie WANG ; Peng WANG ; Pengli WANG ; Qiushi WANG ; Xiaoning WANG ; Xinhua WANG ; Xuefeng WANG ; Yong WANG ; Yongjun WANG ; Yuanjie WANG ; Zhihua WANG ; Shaojun WEI ; Yaming WEI ; Jianbo WEN ; Jun WEN ; Jiang WU ; Jufeng WU ; Aijun XIA ; Fei XIA ; Rong XIA ; Jue XIE ; Yanchao XING ; Yan XIONG ; Feng XU ; Yongzhu XU ; Yongan XU ; Yonghe YAN ; Beizhan YAN ; Jiang YANG ; Jiangcun YANG ; Jun YANG ; Xinwen YANG ; Yongyi YANG ; Chunyan YAO ; Mingliang YE ; Changlin YIN ; Ming YIN ; Wen YIN ; Lianling YU ; Shuhong YU ; Zebo YU ; Yigang YU ; Anyong YU ; Hong YUAN ; Yi YUAN ; Chan ZHANG ; Jinjun ZHANG ; Jun ZHANG ; Kai ZHANG ; Leibing ZHANG ; Quan ZHANG ; Rongjiang ZHANG ; Sanming ZHANG ; Shengji ZHANG ; Shuo ZHANG ; Wei ZHANG ; Weidong ZHANG ; Xi ZHANG ; Xingwen ZHANG ; Guixi ZHANG ; Xiaojun ZHANG ; Guoqing ZHAO ; Jianpeng ZHAO ; Shuming ZHAO ; Beibei ZHENG ; Shangen ZHENG ; Huayou ZHOU ; Jicheng ZHOU ; Lihong ZHOU ; Mou ZHOU ; Xiaoyu ZHOU ; Xuelian ZHOU ; Yuan ZHOU ; Zheng ZHOU ; Zuhuang ZHOU ; Haiyan ZHU ; Peiyuan ZHU ; Changju ZHU ; Lili ZHU ; Zhengguo WANG ; Jianxin JIANG ; Deqing WANG ; Jiongcai LAN ; Quanli WANG ; Yang YU ; Lianyang ZHANG ; Aiqing WEN
Chinese Journal of Trauma 2024;40(10):865-881
Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.
7.Report of six cases with mast cell leukemia and a literature review
Feng ZHU ; Yuan YU ; Chunyan CHEN ; Wenbing DUAN ; Qian JIANG ; Rui YAN ; Yu SUN ; Yanqiu HAN ; Jing ZHANG ; Huan WANG ; Qiurong ZHANG ; Suning CHEN ; Wanhui YAN ; Mengjie CAI ; Zhibo ZHANG ; Jia YIN ; Qian WANG
Chinese Journal of Internal Medicine 2024;63(10):996-1000
From October 2021 to February 2023, we retrospectively analyzed the clinical and laboratory data of six patients (three male and three female, median age: 54 years, age range: 29-73 years) with mast cell leukemia (MCL) diagnosed in the First Affiliated Hospital of Soochow University (The Mastocytosis Collaborative Network of China). All patients had acute MCL, with at least one C-finding present. The main clinical presentations were hypoalbuminemia ( n=4), fatigue ( n=3), fever ( n=2), abdominal discomfort ( n=2), osteolytic lesions ( n=2), dizziness ( n=1), skin flushing ( n=1), and weight loss ( n=1). Splenomegaly and lymphadenopathy were noted in six and three patients, respectively. Six patients were strongly positive for CD117, five were positive for CD30 and CD25, and four were positive for CD2. Four patients had a normal karyotype and two patients had an abnormal karyotype. Gene mutations were detected in 4/6 cases. The median serum tryptase level was 24.9 (range: 20.1-171.9) μg/L. Two patients were treated with venetoclax and azacitidine for induction (one patient achieved partial remission by combination with afatinib, while there was no remission after combination with dasatinib in the other patient). Two patients did not achieve complete remission despite treatment with cladribine and imatinib, respectively. One patient treated with interferon combined with glucocorticoids was lost to follow-up, and one patient abandoned treatment. The follow-up time ranged from 1.1 to 21.7 months. Three patients died and two survived. Overall, MCL is a rare subtype of systemic mastocytosis with heterogeneous clinical course, and these patients have poor outcome. A better understanding of the clinical characteristics, treatment, and prognosis of MCL is urgently needed.
8.Analysis of distribution and drug resistance of pathogens in 85 severe COVID-19 patients with pathegenic bacteria infection
Hefei ZHA ; Qian SHI ; Chunyan LIU ; Yongxin LI ; Maimaiti YIBEIBAIHAN ; Xin ZHANG
Chinese Journal of Clinical Laboratory Science 2024;42(9):707-711
Objective To analyze the clinical characteristics and pathogen infection of severe patients with COVID-19 retrospectively.Methods The clinical data and laboratory test results of 85 severe COVID-19 patients combined with pathogenic bacterial infection ad-mitted to the Hospital of Xinjiang Production and Construction Corps from December 1,2022 to February 20,2023 were collected.The patients were divided into the cure group and death group based on the outcome.Meanwhile,the distribution and drug resistance of the infected pathogens were analyzed.Results The median age and length of hospitalization of 85 patients with severe COVID-19 were 82(75,84)years old and 14(9,23)days,respectively.Their most common underlying diseases were hypertension,heart disease,and diabetes.There were 63 patients in the cure group and 22 in the death group,with a mortality rate as high as 25.9%.The levels of white blood cell count,neutrophil to lymphocyte ratio,and C-reactive protein in the patients of the death group were significanly higher than those in the cure group(P<0.05).However,the percentage of lymphocytes was the opposite(P<0.05).A total of 128 strains of pathogenic bacteria were isolated from 85 patients.Among them,21 strains(16.4%)were Gram-positive bacteria,predominantly Staphylococcus aureus.66 strains(51.6%)were Gram-negative bacteria,mainly Klebsiella pneumoniae,Acinetobacter baumannii,and Pseudomonas aeruginosa.41 strains(32.0%)were fungi,primarily Candida albicans.The proportion of methicillin-resistant Staphylo-coccus aureus(MRSA)was as high as 56%,while those of carbapenem-resistant Klebsiella pneumoniae,Acinetobacter baumannii,and Pseudomonas aeruginosa were 14%,50%,and 18%,respectively.Conclusion The severe COVID-19 patients who are elderly or have underlying diseases may be infected with carbapenem-resistant Klebsiella pneumoniae,Acinetobacter baumannii,Pseudomonas aeruginosa,and MRSA.In clinical practice,rational selection of antibiotics should be made and effective measures should be taken to prevent the spread of multidrug-resistant bacteria and reduce the risk of mortality.
9.Effects of clinical treatment decisions on long-term survival outcomes of locally advanced breast cancer with different molecular subtypes based on the SEER database
Fang QIAN ; Haoyuan SHEN ; Chunyan DENG ; Tingting SU ; Chaohua HU ; Chenghao LIU ; Yuanbing XU ; Qingqing YANG
Journal of Clinical Surgery 2024;32(10):1044-1049
Objective To explore the impact of clinical treatment decisions on the long-term survival of different molecular subtypes of locally advanced breast cancer(LABC),and to promote the development of more effective and individualized treatment regimens for LABC.Methods The cases of LABC diagnosed by pathology from 2010 to 2015 were searched in the database.Breast cancer-specific survival(BCSS)and overall survival(OS)were estimated by plotting Kaplan-Meier curves.The log rank test(Mantel-Cox)was used to analyze the difference between the groups,and the benefit population of LABC was determined after for age,TNM stage,grade,treatment methods.Results The 5-year OS and BCSS were 77.43%and 84.34%in breast-conserving,and 68.03%and 76.90%in mastectomy,respectively.The 5-year OS and BCSS of Luminal A LABC were 79.91%and 87.23%in breast-conserving,and 71.78%and 81.16%in mastectomy,respectively.The 5-year OS and BCSS of Luminal B LABC were 79.30%and 83.14%in breast-conserving,and were 70.37%and 76.92%in mastectomy,respectively.The 5-year OS and BCSS of triple-negative LABC were 60.77%and 68.13%in breast-conserving,and those of mastectomy were 47.13%and 55.94%,respectively.The 5-year OS and BCSS of HER2 positive were 75.42%,82.05%in breast-conserving,and were 67.05%and 75.01%in mastectomy,respectively;The 5-year OS and BCSS of triple-positive LABC were 86.12%and 91.63%in breast-conserving,and 74.54%and 82.56%in mastectomy,respectively.The 5-year OS and BCSS of well differentiated and N0 triple-positive LABC patients with chemotherapy were 88.24%and 76.91%,and those of patients without chmotherapy were 88.24%and 90.91%,respectively(BCSS:P=0.812;OS:P=0.311).Conclusion In the selective population,OS and BCSS of patients with LABC undergoing breast conserving surgery were significantly better than those of mastectomy.When OS and BCSS were compared for different molecular types and stages of LABC,breast-conserving surgery was still superior to total mastectomy.LABC could be considered for highly differentiated,N0 stage Triple positive without chemotherapy.
10.Carrier screening for 223 monogenic diseases in Chinese population:a multi-center study in 33 104 individuals
Wei HOU ; Xiaolin FU ; Xiaoxiao XIE ; Chunyan ZHANG ; Jiaxin BIAN ; Xiao MAO ; Juan WEN ; Chunyu LUO ; Hua JIN ; Qian ZHU ; Qingwei QI ; Yeqing QIAN ; Jing YUAN ; Yanyan ZHAO ; Ailan YIN ; Shutie LI ; Yulin JIANG ; Manli ZHANG ; Rui XIAO ; Yanping LU
Journal of Southern Medical University 2024;44(6):1015-1023
Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Result Analysis
Print
Save
E-mail