1.Serological characteristics and bioinformatics analysis of 4 blood donors with RHCE*cE(281C,282T) variant allele.
Fan WU ; Naibao ZHUANG ; Liyan SUN ; Tong LIU ; Yanlian LIANG ; Shuang LIANG
Chinese Journal of Medical Genetics 2025;42(2):137-144
OBJECTIVE:
To explore the serological characteristics and bioinformatics analysis results of 4 blood donors with RHCE*cE(281C, 282T) variant allele.
METHODS:
A total of 4 non-related blood donors with RHCE*cE (281C, 282T) variant allele (donors 1-4) were selected as the study objects. They donated blood at Shenzhen Blood Center from January 2022 to June 2023. The 4 blood donors were all Han. And 5 mL elbow venous blood was collected from these 4 blood donors. Regular serological assaying with 4 kinds of monoclonal antibody reagents was used for determination of the RhCcEe type. The nucleotide sequences of all 10 exons and adjacent flanking intron regions of RHCE gene in these 4 donors were analyzed by Sanger sequencing, and the full-length haplotype analysis of RHCE gene was performed by using the single-molecule real-time sequencing (SMRT) third-generation technology. DeepTMHMM software was used to analyze the structure of protein transmembrane region of wild type and variant RhCcEe protein and predict the location of amino acid substitution. The effects of mutations on RhCcEe protein function were analyzed using PolyPhen-2, SIFT and Mutation Taster bioinformatics software. Robetta and Swiss-PdbViewer v4.1.0 were used for modeling the tertiary structures of RhCcEe to analyze the difference between wild type and variant RhCcEe protein. The mutation was rated according to the standards and guidelines for the classification of genetic variants of the American College of Medical Genetics and Genomics (ACMG). This study has been approved by the Medical Ethics Committee of Shenzhen Blood Center (Approval No. SZBCMEC-2022-024).
RESULTS:
The RhCcEe phenotypes of the 4 blood donors were CCEweake by serological assaying. The RhE antigen were weakly expressed form 0 to 3+. The analysis of RHCE gene sequence indicated that all the 4 donors with RHCE*cE (281C, 282T) allele. The mutation caused the substitution of a single amino acid in the RhCcEe protein (p.Leu94 Pro) and the amino acid substitution was located in the transmembrane α3 chain resulted in significant changes in the 3D structure of the extracellular region of RhCcEe protein. The substitution was predicted to be "Probably damaging", "Damaging" and "Polymorphism" by PolyPhen-2, SIFT and Mutation Taster bioinformatics software. According to the guidelines of ACMG, the variant was rated to be likely pathogenic.
CONCLUSION
The RHCE*cE (281C, 282T) variant allele was first found in the Han Chinese population. The serological data of this allele were enriched. It provides an important guarantee for the safety of blood transfusion. Bioinformatics analysis provided evidences for further study of the structure and functions of RhCcEe protein.
Humans
;
Blood Donors
;
Computational Biology/methods*
;
Alleles
;
Rh-Hr Blood-Group System/genetics*
;
Male
;
Female
;
Adult
;
Exons
2.Serological characteristics and bioinformatics analysis of 4 blood donors with RHCE*cE( 281C, 282T) variant allele
Fan WU ; Naibao ZHUANG ; Liyan SUN ; Tong LIU ; Yanlian LIANG ; Shuang LIANG
Chinese Journal of Medical Genetics 2025;42(2):137-144
Objective:To explore the serological characteristics and bioinformatics analysis results of 4 blood donors with RHCE*cE( 281C, 282T) variant allele. Methods:A total of 4 non-related blood donors with RHCE*cE ( 281C, 282T) variant allele (donors 1-4) were selected as the study objects. They donated blood at Shenzhen Blood Center from January 2022 to June 2023. The 4 blood donors were all Han. And 5 mL elbow venous blood was collected from these 4 blood donors. Regular serological assaying with 4 kinds of monoclonal antibody reagents was used for determination of the RhCcEe type. The nucleotide sequences of all 10 exons and adjacent flanking intron regions of RHCE gene in these 4 donors were analyzed by Sanger sequencing, and the full-length haplotype analysis of RHCE gene was performed by using the single-molecule real-time sequencing (SMRT) third-generation technology. DeepTMHMM software was used to analyze the structure of protein transmembrane region of wild type and variant RhCcEe protein and predict the location of amino acid substitution. The effects of mutations on RhCcEe protein function were analyzed using PolyPhen-2, SIFT and Mutation Taster bioinformatics software. Robetta and Swiss-PdbViewer v4.1.0 were used for modeling the tertiary structures of RhCcEe to analyze the difference between wild type and variant RhCcEe protein. The mutation was rated according to the standards and guidelines for the classification of genetic variants of the American College of Medical Genetics and Genomics (ACMG). This study has been approved by the Medical Ethics Committee of Shenzhen Blood Center (Ethics No. SZBCMEC-2022-024). Results:The RhCcEe phenotypes of the 4 blood donors were CCE weake by serological assaying. The RhE antigen were weakly expressed form 0 to 3+. The analysis of RHCE gene sequence indicated that all the 4 donors with RHCE*cE ( 281C, 282T) allele. The mutation caused the substitution of a single amino acid in the RhCcEe protein (p. Leu94 Pro) and the amino acid substitution was located in the transmembrane α3 chain resulted in significant changes in the 3D structure of the extracellular region of RhCcEe protein. The substitution was predicted to be "Probably damaging", "Damaging" and "Polymorphism" by PolyPhen-2, SIFT and Mutation Taster bioinformatics software. According to the guidelines of ACMG, the variant was rated to be likely pathogenic. Conclusion:The RHCE*cE ( 281C, 282T) variant allele was first found in the Han Chinese population. The serological data of this allele were enriched. It provides an important guarantee for the safety of blood transfusion. Bioinformatics analysis provided evidences for further study of the structure and functions of RhCcEe protein.
3.Serological characteristics and bioinformatics analysis of 4 blood donors with RHCE*cE( 281C, 282T) variant allele
Fan WU ; Naibao ZHUANG ; Liyan SUN ; Tong LIU ; Yanlian LIANG ; Shuang LIANG
Chinese Journal of Medical Genetics 2025;42(2):137-144
Objective:To explore the serological characteristics and bioinformatics analysis results of 4 blood donors with RHCE*cE( 281C, 282T) variant allele. Methods:A total of 4 non-related blood donors with RHCE*cE ( 281C, 282T) variant allele (donors 1-4) were selected as the study objects. They donated blood at Shenzhen Blood Center from January 2022 to June 2023. The 4 blood donors were all Han. And 5 mL elbow venous blood was collected from these 4 blood donors. Regular serological assaying with 4 kinds of monoclonal antibody reagents was used for determination of the RhCcEe type. The nucleotide sequences of all 10 exons and adjacent flanking intron regions of RHCE gene in these 4 donors were analyzed by Sanger sequencing, and the full-length haplotype analysis of RHCE gene was performed by using the single-molecule real-time sequencing (SMRT) third-generation technology. DeepTMHMM software was used to analyze the structure of protein transmembrane region of wild type and variant RhCcEe protein and predict the location of amino acid substitution. The effects of mutations on RhCcEe protein function were analyzed using PolyPhen-2, SIFT and Mutation Taster bioinformatics software. Robetta and Swiss-PdbViewer v4.1.0 were used for modeling the tertiary structures of RhCcEe to analyze the difference between wild type and variant RhCcEe protein. The mutation was rated according to the standards and guidelines for the classification of genetic variants of the American College of Medical Genetics and Genomics (ACMG). This study has been approved by the Medical Ethics Committee of Shenzhen Blood Center (Ethics No. SZBCMEC-2022-024). Results:The RhCcEe phenotypes of the 4 blood donors were CCE weake by serological assaying. The RhE antigen were weakly expressed form 0 to 3+. The analysis of RHCE gene sequence indicated that all the 4 donors with RHCE*cE ( 281C, 282T) allele. The mutation caused the substitution of a single amino acid in the RhCcEe protein (p. Leu94 Pro) and the amino acid substitution was located in the transmembrane α3 chain resulted in significant changes in the 3D structure of the extracellular region of RhCcEe protein. The substitution was predicted to be "Probably damaging", "Damaging" and "Polymorphism" by PolyPhen-2, SIFT and Mutation Taster bioinformatics software. According to the guidelines of ACMG, the variant was rated to be likely pathogenic. Conclusion:The RHCE*cE ( 281C, 282T) variant allele was first found in the Han Chinese population. The serological data of this allele were enriched. It provides an important guarantee for the safety of blood transfusion. Bioinformatics analysis provided evidences for further study of the structure and functions of RhCcEe protein.
4.Relationship between eating out and overweight, obesity, and fatty liver disease in adult residents in a suburban area of Shanghai
Jing LI ; Yongmei LI ; Ying LU ; Hongkun SUN ; Dan HUANG ; Mei ZHANG ; Liyan ZHUANG ; Yan JIN ; Dawei MU
Shanghai Journal of Preventive Medicine 2023;35(9):893-898
ObjectiveTo investigate the prevalence of overweight, obesity and fatty liver disease (FLD) in adult residents in a suburban area of Shanghai, and to explore the relationship between these conditions and eating out of home (EOH). MethodsAdult residents from Zhongshan Street, Songjiang, Shanghai, were invited to report their frequency of EOH and undergo a physical examination using B-ultrasonography from May to September 2017. Binary logistic regression analyses were conducted to examine the relationship between EOH and conditions of overweight, obesity, and FLD. ResultsAmong the final sample size of 6 608 participants, the prevalence rates of overweight, obesity, and FLD were 41.65%, 14.71% and 38.29%, respectively. After adjusting for potential confounders, logistic analyses revealed that participants with an EOH frequency > once/week had a 1.44-fold higher prevalence of obesity (P=0.006), a 1.35-fold higher prevalence of overweight/obesity (P=0.005), and a 1.36-fold higher prevalence of FLD (P=0.008). ConclusionThe prevalence of overweight, obesity, and FLD is relatively high in Songjiang, Shanghai. EOH may be a risk factor for these diseases, and residents are recommended to reduce the frequency of EOH.
5. Prevalence of reproductive system diseases among female workers in a city and related occupational influencing factors: an analysis of 9944 cases
Li HU ; Liyan FANG ; Zhuang SHEN ; Yingdi REN ; Zihuan WANG ; Yijie XIONG ; Guixin YU ; Ligeng SUN ; Yan YE
Chinese Journal of Industrial Hygiene and Occupational Diseases 2018;36(2):118-121
Objective:
To investigate the prevalence of reproductive system diseases among female workers in a city and related occupational influencing factors.
Methods:
From June to September, 2016, a cross-sectional survey was used to select 9 944 female workers from six districts of Beijing and then a face-to-face questionnaire survey was performed. Univariate analysis using chi-square test and multivariate logistic regression analysis were used to investigate the risk factors for reproductive system diseases.
Results:
The age of 9944 female workers ranged from 18 to 65 years (mean 35.53±9.52 years) , and among them, 7 351 (73.92%) were married. The overall prevalence rate of reproductive system diseases among these 9944 female workers during the past three months was 28.29%, and the prevalence rates of hyperplasia of mammary glands, vaginitis, and hysteromyoma were 15.54%, 11.25%, and 6.77%, respectively. After adjustment for age, marital status, education level, and annual family income, the multivariate logistic regression analysis showed that frequent overtime work (odds ratio[
6.Ultrasonographic quantitative evaluation of thyroid nodule capsular reaction
Qiuyang GU ; Shuqiang CHEN ; Jinshu ZENG ; Yong ZHUANG ; Liyan HUANG
Chinese Journal of Medical Imaging Technology 2017;33(12):1821-1823
Objective To quantitatively observe the value of relationship between nodule and corresponding capsular with ultrasonography in assessment of malignant and benign thyroid nodules.Methods A total of 79 cases with subcapsular tumors of thyroid gland confirmed pathologically were analyzed retrospectively,and the relationship between tumors and capsule was analyzed.Longitudinal diameter of nodules (from the junction of nodule and capsule to the deepest of nodule,V) and distance from nodule protruding thyroid capsule to the highest point of nodule (L) were measured,and L/V was evaluated.Diagnostic efficiency of L/V in diagnosis of malignant thyroid nodule was evaluated.Results The average L/V of benign and malignant nodules was 0.241± 0.041 and 0.162± 0.054,respectively (t=-7.367,P<0.01).The area under ROC curve of L/V in diagnosis of benign and malignant thyroid nodules was 0.87 (P<0.01).When L/V=0.225,the sensitivity was 82.17%,and the specificity was 87.53%;when L/V=0.245,the sensitivity was 67.10 %,and the specificity was 95.12%.Conclusion Ultrasonography can clearly show the relationship between thyroid nodules and capsule,and L/V can be used for differential diagnosis of benign and malignant thyroid nodules.
7.How Precisely Can Prostate Cancer Be Managed?.
Liyan ZHUANG ; Matthew T JOHNSON
International Neurourology Journal 2016;20(Suppl 2):S120-S130
Progress has been made in applying genetic information to disease management in the postgenomic era, and precision medicine is emerging in prostate cancer management. The prostate health index, the 4-kallikrein (4K) score, and the PCA3, TMPRSS2-ERG, and Prostarix tests have potential for refining prostate cancer screening in conjunction with traditional prostate-specific antigen testing. The Confirm MDx and PCA3 tests have shown promise in identifying men who need be rebiopsied after a primary negative biopsy. Oncotype DX, Prolaris, the biopsy-based Decipher prostate cancer test, and ProMark may improve predictive risk stratification in addition to the traditional Gleason score and tumor stage. Decipher and Prolaris may predict biochemical recurrence and metastasis after radical prostatectomy and possibly help identify patients who need adjuvant therapy. Androgen receptor splice variant 7 appears effective in guiding the selection of second hormonal manipulation with abiraterone or enzalutamide versus chemotherapy when treating metastatic castration-resistant prostate cancer.
Biomarkers
;
Biopsy
;
Disease Management
;
Drug Therapy
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Humans
;
Male
;
Mass Screening
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Neoplasm Grading
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Neoplasm Metastasis
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Precision Medicine
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Prostate*
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Prostate-Specific Antigen
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Prostatectomy
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Prostatic Neoplasms*
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Receptors, Androgen
;
Recurrence
8.How Precisely Can Prostate Cancer Be Managed?.
Liyan ZHUANG ; Matthew T JOHNSON
International Neurourology Journal 2016;20(Suppl 2):S120-S130
Progress has been made in applying genetic information to disease management in the postgenomic era, and precision medicine is emerging in prostate cancer management. The prostate health index, the 4-kallikrein (4K) score, and the PCA3, TMPRSS2-ERG, and Prostarix tests have potential for refining prostate cancer screening in conjunction with traditional prostate-specific antigen testing. The Confirm MDx and PCA3 tests have shown promise in identifying men who need be rebiopsied after a primary negative biopsy. Oncotype DX, Prolaris, the biopsy-based Decipher prostate cancer test, and ProMark may improve predictive risk stratification in addition to the traditional Gleason score and tumor stage. Decipher and Prolaris may predict biochemical recurrence and metastasis after radical prostatectomy and possibly help identify patients who need adjuvant therapy. Androgen receptor splice variant 7 appears effective in guiding the selection of second hormonal manipulation with abiraterone or enzalutamide versus chemotherapy when treating metastatic castration-resistant prostate cancer.
Biomarkers
;
Biopsy
;
Disease Management
;
Drug Therapy
;
Humans
;
Male
;
Mass Screening
;
Neoplasm Grading
;
Neoplasm Metastasis
;
Precision Medicine
;
Prostate*
;
Prostate-Specific Antigen
;
Prostatectomy
;
Prostatic Neoplasms*
;
Receptors, Androgen
;
Recurrence
9.Comparative analysis on drug-resistant bacterial distribution and drug resistance characteristics of lower respiratory tract infection in different regions of respiratory department
Jianhua LI ; Liyan ZHANG ; Yunrui JI ; Luming DAI ; Min LI ; Jiao YANG ; Xi TIAN ; Zhuang LUO ; Chu WANG
Chongqing Medicine 2016;45(10):1330-1333
Objective To investigate the distribution and constituent of drug‐resistant bacteria of lower respiratory tract in‐fection among different regions (outpatient department ,wards ,RICU) to provide the basis for the clinical reasonable application of antimicrobial agents .Methods The K‐B disc diffusion method and the instrument method (VITEK‐TWO) were adopted and the detection results were interpreted according to the standards of CLSI 2010 .The detection data of 480 drug‐resistant strains isolated from the sputum ,branchoalveolar lavage fluid samples submitted in 3 regions of respiratory outpatients department by bacterial cul‐ture identification and drug susceptibility test were analyzed by using the WHONET5 .6 statistical software .Results The distribu‐tion and constituent of drug‐resistant bacteria of lower respiratory tract infection had obvious difference among 3 different regions . The top 4 of drug resistant bacteria were dominated by Gram‐negative bacteria .The drug resistance rate of Klebsiella pneumoniae in RICU was higher than that in the respiratory outpatients department and wards(P<0 .05) ,the resistance rate in the respiratory outpatients department ,wards and RICU to commonly used antibacterial drugs was similar;the multiple drug resistance of ESBLs‐producing strains was obviously higher than that of non‐ESBLs‐producing strains (P<0 .05) .Pseudomonas aeruginosa maintained the higher antibacterial activity to quinolone ,aminoglucosides ,cefepime ,imipenem ,cefoperazone/sulbactam ,and piperacillin/tazobactam ,but the resistance rate in RICU was significantly higher that in the respiratory outpatient department and wards (P<0 .05);the drug resistance of Acinetobacter baumanii in the respiratory wards and RICU was higher than that in the respiratory out‐patient department ,the resistances to imipenem were 64 .6% and 70 .4% respectively .The resistance of MRSA to rifampin in RICU was higher than that in the respiratory outpatient department and wards(P<0 .05) .Conclusion The distribution constituent and drug‐resistance rates have obvious differences among the respiratory outpatient department ,wards and RICU .Except being familiar with the drug resitant bacterial distribution and drug resistance rate monitoring situation ,clinical doctors should grasp the drug re‐sistance situation of drug resistant bacteria among different areas in various departments of own unit in order to rationally and effec‐tively use antibacterial drugs .
10.Evaluation of Antimicrobial Efficacy of Local Drug Resistance Spectrum Antibiotics and Foreign Guideline on Community Acquired Pneumonia
Jianhua LI ; Luming DAI ; Liyan ZHANG ; Min LI ; Jiao YANG ; Xi TIAN ; Zhuang LUO ; Yan FANG ; Xiulin YE ; Huilin HE
Journal of Kunming Medical University 2016;37(5):75-80
Objective To evaluate the clinical efficacy of the local drug resistance spectrum antibiotics and foreign guideline in the treatment of patients with community acquired pneumonia(CAP). Methods A prospective,randomized,single blind,and positive drug parallel controlled design was used in the treatment. CAP patients with no underlying disease outpatients and inpatients<48 hours were selected as the research object. The patients in the trial group were given sensitive local drug resistance spectrum antibiotics: moxifloxacin,400 mg and 1 times a day. The patients in the control group were given azithromycin tablets(each 500 mg,once daily) promulgated by the 2007 version of the IDSA / ATS adult CAP guideline. Results There were 106 cases of CAP patients,of which 77 cases completed treatment,including 39 cases in the experimental group and 38 cases in the control group. There were significant differences in the clinical efficacy and bacterial clearance rate between the two groups,with the clinical efficacy of 89.7% and 68.4%(P < 0.01),the bacterial clearance rate of 87.9% and 54.5%(P < 0.05),respectively. Conclusion The clinical efficacy of drug resistant spectrum sensitive antibiotics in the treatment of CAP in Kunming was better than that of IDSA/ATS. Clinicians should pay attention to the characteristics and composition of resistance of common pathogenic bacteria in our country during the study and reference from foreign guideline,and adjust the therapeutic regimen according to the changes of the local drug resistance monitoring data rather than copy the recommended treatment plan by foreign countries.

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