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1.
Article in Chinese | WPRIM | ID: wpr-1023392

ABSTRACT

Objective:To establish a clinical laboratory diagnostic pathway for hepatitis C covering diagnosis, differential diagnosis, drug toxicity monitoring, and therapeutic and prognostic evaluation, and to explore a new teaching model for laboratory diagnostics based on the clinical laboratory diagnostic pathway.Methods:According to the clinical diagnosis and treatment guidelines for hepatitis C, laboratory testing strategies for different stages of diagnosis and treatment of the disease were formulated to establish a clinical laboratory diagnostic pathway for hepatitis C. The pathway was applied in the teaching for undergraduate medical students of the seven-year program of grade 2019 of The First Clinical College of Wuhan University, with those of grade 2018 as the control to receive traditional teaching. The teaching effect was compared through questionnaires and quizzes in class. The data were analyzed through the t test with the use of SPSS 19.0. Results:A clinical laboratory diagnostic pathway for hepatitis C recognized by clinicians was established, covering the entire process of clinical diagnosis, differential diagnosis, monitoring of drug side effects, and therapeutic and prognostic evaluation. The students of grade 2019 receiving the pathway-based teaching model had significant improvements in teaching quality evaluation indicators ( P<0.05), with the most marked improvement in "having mastered the key and difficult points of this lesson", with a score of (60.90±2.15) points for grade 2018 and (84.80±3.44) points for grade 2019. The total score for teaching evaluation was significantly higher in students of grade 2019 than in those of grade 2018 [(94.02±4.29) vs. (79.21±3.68)] points, P<0.05). Grade 2019 also had a significantly higher classroom quiz score than grade 2018 (94.60±5.63) vs. (78.10±4.92), P<0.01]. Conclusions:We established and applied a clinical laboratory diagnostic pathway of hepatitis C in the teaching model of laboratory diagnostics, which organically integrates laboratory diagnostics and clinical medicine, and significantly improves the quality of teaching.

2.
Article in Chinese | WPRIM | ID: wpr-995736

ABSTRACT

The gynecological tumours such as Breast cancer or female reproductive system tumors are a serious threat to female health. With the development of molecular diagnosis, the genomic changes of gynecological tumours have been revealed continuously, and the diagnosis and treatment modes of tumors have gradually changed. The detection of molecular targets which potentially participated in the transformation or progress of disease has become an important section of the management of female reproductive tumors, and accurate identification of molecular targets of tumors plays an important role in disease diagnosis, monitoring of metastasis, prediction of recurrence and treatment. This review briefly discusses the risk assessment, molecular typing, targeted therapy, toxic and side effects, and prognosis evaluation of breast and female reproductive system tumors by molecular diagnosis.

3.
Article in Chinese | WPRIM | ID: wpr-811628

ABSTRACT

In December, the outbreak of a novel coronavirus (2019-nCoV) in Wuhan, China, has attracted extensive global attention. On January 20, 2020,the Chinese health authorities upgraded the coronavirus to a Class B infectious disease in the Law of the People's Republic of China on the Prevention and Treatment of Infectious Diseases, and considered it as Class A infectious diseases in disease control and prevention. On January 22, 2020, the 2019-nCoV nucleic acid detection test was listed as the diagnostic criteria in the "guidelines for diagnosis and treatment of pneumonia due to 2019-nCoV (Trial Version 2)" . Therefore, standardizing the operation process of the 2019-nCoV nucleic acid detection in clinical laboratories has become a top priority. It is of paramount importance to establish standard protocols for detection of the 2019-nCoV nucleic acids in clinical laboratories to improve the reliability of the results and ensure the biosafety of laboratory personnel.

4.
Article in Chinese | WPRIM | ID: wpr-811640

ABSTRACT

Objective@#To investigate the positive rate for 2019-nCoV tests and co-infections in Wuhan district.@*Methods@#A total of 8 274 cases in Wuhan were enrolled in this cross-sectional study during January 20 to February 9, 2020, and were tested for 2019-nCoV using fluorescence quantitative PCR. Both respiratory tract samples (nasopharynx, oropharynx, sputum and alveolar lavage fluid) and non-respiratory tract samples (urine, feces, anal swabs, blood and conjunctival sac swabs) were collected. If both orf1ab and N genes are positive, they are classified as nucleic acid test positive group; if both orf1ab and N genes are negative, they are classified as negative group; if single gene target is positive, they are classified as suspicious group. Individuals were divided into male group and female group according to sex. At the same time, 316 patients were tested for 13 respiratory pathogens by multiplex PCR.@*Results@#Among the 8 274 subjects, 2 745 (33.2%) were 2019-nCoV infected; 5 277 (63.8%) subjects showed negative results in the 2019-nCoV nucleic acid test; and 252 cases (3.05%) was not definitive (inconclusive result). The age of cases with COVID-19 patients and inconclusive cases was significantly higher than that of cases without 2019-nCoV infection (40 vs 56, t=27.569, P<0.001; 52 vs 56, t=6.774, P<0.001). The positive rate of 13 respiratory pathogens multiple tests was significantly lower in 104 subjects who were positive for 2019-nCoV compared with those in subjects who were negative for 2019-nCoV test (5.77% vs 18.39%, χ2=24.105, P=0.003). Four types of respiratory tract samples and five types of non-respiratory tract samples were found to be positive for 2019-nCoV nucleic acid test.@*Conclusion@#The 2019-nCoV nucleic acid positive rate in male is higher than in female. Co-infections should be pay close attention in COVID-19 patients. 2019-nCoV nucleic acid can be detected in non-respiratory tract samples.

5.
Article in Chinese | WPRIM | ID: wpr-871900

ABSTRACT

In December, the outbreak of a novel coronavirus (2019-nCoV) in Wuhan, China, has attracted extensive global attention. On January 20, 2020, the Chinese health authorities upgraded the coronavirus to a Class B infectious disease in the Law of the People′s Republic of China on the Prevention and Treatment of Infectious Diseases, and considered it as Class A infectious diseases in disease control and prevention. On January 18, 2020, the 2019-nCoV nucleic acid detection test was listed as the diagnostic criteria in the "guidelines for diagnosis and treatment of pneumonia due to 2019-nCoV (Trial Version 2)" . Therefore, standardizing the operation process of the 2019-nCoV nucleic acid detection in clinical laboratories has become a top priority. It is of paramount importance to establish standard protocols for detection of the 2019-nCoV nucleic acids in clinical laboratories to improve the reliability of the results and ensure the biosafety of laboratory personnel.

6.
Article in Chinese | WPRIM | ID: wpr-871902

ABSTRACT

Objective:To investigate the positive rate for 2019-nCoV tests and co-infections in Wuhan district.Methods:A total of 8 274 cases in Wuhan were enrolled in this cross-sectional study during January 20 to February 9 in 2020, and were tested for 2019-nCoV using fluorescence quantitative PCR. Both respiratory tract samples (nasopharynx, oropharynx, sputum and alveolar lavage fluid) and non-respiratory tract samples (urine, feces, anal swabs, blood and conjunctival sac swabs) were collected. If both orf1ab and N genes are positive, they are classified as nucleic acid test positive group; if both orf1ab and N genes are negative, they are classified as negative group; if single gene target is positive, they are classified as suspicious group. Individuals were divided into male group and female group according to sex. At the same time, 316 patients were tested for 13 respiratory pathogens by multiplex PCR.Results:Among the 8 274 subjects, 2 745 (33.17%) were 2019-nCoV infected; 5 277 (63.77%) subjects showed negative results in the 2019-nCoV nucleic acid test; and 252 cases (3.05%) was not definitive (inconclusive result). The age of cases with COVID-19 patients and inconclusive cases was significantly higher than that of cases without 2019-nCoV infection (56>40, t=27.569, P<0.001; 52>40, t=6.774, P<0.001). The positive rate of 13 respiratory pathogens multiple tests was significantly lower in 104 subjects who were positive for 2019-nCoV compared with those in subjects who were negative for 2019-nCoV test (5.77% vs 18.39%, χ 2=24.105, P=0.003). Four types of respiratory tract samples and five types of non-respiratory tract sampleswere found to be positive for 2019-nCoV nucleic acid test. Conclusion:The 2019-nCoV nucleic acid positive rate inmale is higher than infemale. Co-infections should be pay close attention in COVID-19 patients. 2019-nCoV nucleic acid can be detected in non-respiratory tract samples.

7.
Article in Chinese | WPRIM | ID: wpr-871964

ABSTRACT

Acute respiratory tract infections ranks first in China for various infectious diseases.Lower respiratory tract infections and related diseases caused a heavy burden on China′s medical care and society. In particular, COVID has caused great losses. This article discusses the standardization of clinical pathological diagnosis of respiratory pathogen infection, in order to improve the correct diagnosis of the disease and facilitate the timely treatment of the disease.

8.
Article in Chinese | WPRIM | ID: wpr-657216

ABSTRACT

Objective To investigate the value of detection of human epididymal epithelial secretory protein (HE4) ,carbohy-drate antigen (CA125) and carbohydrate antigen (CA199) in the early diagnosis of ovarian cancer .Methods The clinical data of patients admitted to the hospital from June 2014 to August 2016 were collected from Renmin Hospital of Wuhan University .Ac-cording to the postoperative pathology ,the patients were divided into ovarian cancer group and ovarian benign tumor group .There were 90 cases in ovarian cancer group and 94 cases in ovarian benign tumor group ,98 cases of healthy women in the physical exami-nation center of this hospital were selected as healthy control group .HE4 was detected by ELISA ,serum CA125 and CA199 were detected by chemiluminescence method .Results Compared with healthy control group ,the tumor markers of serum HE4 ,CA125 and CA199 levels were significantly increased (P<0 .01) ,and HE4 and CA125 levels increased more significantly .Compared with ovarian benign tumor group ,the levels of HE4 and CA125 significantly increased in ovarian cancer group ,the difference was statisti-cally significant (P<0 .01) ,and the increase of CA199 less(P<0 .05) .Compared with healthy control group ,the levels of CA125 and CA199 in the benign ovarian tumor group were significantly increased (P<0 .05) .Correlation analysis showed that there were strong correlations between the 3 indexes of HE4 ,CA125 and CA199 in the ovarian cancer group(P<0 .01) .The sensitivity of ser-um CA125 was highest (87 .8% ) in the detection of single marker of ovarian cancer ,while the specificity of serum HE4 was the highest(95 .7% ) .The sensitivity of combined detection of serum HE4 ,CA125 and CA199 was the highest (96 .7% ) ,but the speci-ficity was poor (61 .0% ) .Conclusion Combined detection of serum HE4 ,CA125 and CA199 could significantly improve the early detection rate of ovarian cancer ,but the specificity must be combined with other laboratory tests ,comprehensive analysis and diag-nosis .

9.
Article in Chinese | WPRIM | ID: wpr-659053

ABSTRACT

Objective To investigate the value of detection of human epididymal epithelial secretory protein (HE4) ,carbohy-drate antigen (CA125) and carbohydrate antigen (CA199) in the early diagnosis of ovarian cancer .Methods The clinical data of patients admitted to the hospital from June 2014 to August 2016 were collected from Renmin Hospital of Wuhan University .Ac-cording to the postoperative pathology ,the patients were divided into ovarian cancer group and ovarian benign tumor group .There were 90 cases in ovarian cancer group and 94 cases in ovarian benign tumor group ,98 cases of healthy women in the physical exami-nation center of this hospital were selected as healthy control group .HE4 was detected by ELISA ,serum CA125 and CA199 were detected by chemiluminescence method .Results Compared with healthy control group ,the tumor markers of serum HE4 ,CA125 and CA199 levels were significantly increased (P<0 .01) ,and HE4 and CA125 levels increased more significantly .Compared with ovarian benign tumor group ,the levels of HE4 and CA125 significantly increased in ovarian cancer group ,the difference was statisti-cally significant (P<0 .01) ,and the increase of CA199 less(P<0 .05) .Compared with healthy control group ,the levels of CA125 and CA199 in the benign ovarian tumor group were significantly increased (P<0 .05) .Correlation analysis showed that there were strong correlations between the 3 indexes of HE4 ,CA125 and CA199 in the ovarian cancer group(P<0 .01) .The sensitivity of ser-um CA125 was highest (87 .8% ) in the detection of single marker of ovarian cancer ,while the specificity of serum HE4 was the highest(95 .7% ) .The sensitivity of combined detection of serum HE4 ,CA125 and CA199 was the highest (96 .7% ) ,but the speci-ficity was poor (61 .0% ) .Conclusion Combined detection of serum HE4 ,CA125 and CA199 could significantly improve the early detection rate of ovarian cancer ,but the specificity must be combined with other laboratory tests ,comprehensive analysis and diag-nosis .

10.
Article in Chinese | WPRIM | ID: wpr-664856

ABSTRACT

Objective To investigate the distribution of Human papillomavirus(HPV)genotyping and age in women treated in People′s Hospital of Hubei Province.At the same time,we want to analyse the characteristics of HPV infection.Methods HPV genotyping was detected from the cervical exfoliated cell samples from 7 746 female patients treated in People′s Hospital of Hubei Province from January 6,2016 to January 12,2017.Results There were 1 336 positive cases detected in 7 746 cases of female pa-tients,and the total positive rate was 17.2%.The top eight of HPV subtype infection were 16,52,58,53,81,18,39,56.There were 1 076 cases of single infection,accounting for 80.5%,and the infection of the two types were found in 202 cases,accounting for 15.1%.There were 47 cases of triple infections,accounting for 3.5% and fourfold infection and more were in 11 cases,accounting for 0.9% of all cases.The infection rate of HPV and the infection rate of middle and high risk subtype increased with age,and the infection rate of low risk subtype decreased with age.The detection rate of HPV infection in different age groups had a statistically significant difference(P<0.05).Conclusion The survey of female HPV infection subtype in Hubei Province conforms to the Asian population distribution,and the HPV high-risk subtype infection is mainly distributed in the population over the age of 40.

11.
Article in Chinese | WPRIM | ID: wpr-487868

ABSTRACT

Objective To detect the genotype of hepatitis C virus(HCV)in chronic hepatitis C(CHC)infection patients using gene sequence method and observe the distributive characteristic of HCV genotype in Hubei.Methods A total of 447 HCV-RNA-positive plasma samples were collected from chronic hepatitis C patients in Infectious Diseases Department of Renmin Hospital of Wuhan University from February 2013 to July 2015.Then NS5B region gene sequence of HCV genome were de-tected by Sanger sequencing method and compared with HCV genotype in NCBI genebank database for analyzing HCV geno-type.Results A total of 11 kinds of genotypes were detected,including genotypes 1a,1b,2a,3a,3b,6a,6b,1b/2a,1b/2k,6a/1b and 6d/6k,respectively.Detection cases of various genotypes were respectively 7 cases (1.57%),325 cases (72.71%),67 cases (14.99%),7 cases (1.57%),20 cases (4.47%),14 cases (3.13%),2 cases (0.45%),2 cases (0.45%),1 case (0.22%),1 case (0.22%)and 1 case (0.22%).Conclusion Genotype 1b was the major type of HCV-RNA genotype,fol-lowed by 2a,also other genotypes existed,which prompted that the prevalence of HCV genotype was diversity in Hubei.

12.
Article in Chinese | WPRIM | ID: wpr-604189

ABSTRACT

Objective To evaluated the prevalence of EGFR mutations in Hubei region,to provide reliable experimental basis for reasonable screening TKI beneficiaries in clinic.Methods EGFR mutation of 253 patients diagnosed with NSCLC in Hu-bei region during 2010 to 2015 was detected by PCR-sanger sequencing and ARMS assay,to investigate the sensitivity of dif-ferent methods,to explore the frequency and clinical significance of EGFR mutation in different gender,in different histologi-cal type and different exons.Results 93 of 253 NSCLC patients harbored EGFR mutation,mainly occurred in exon 19 and 21,accounting for 53.76% and 35.38% of the total EGFR mutation rate,respectively.ADx-ARMS method showed higher sensitivity (P=0.001).The mutation detection rate of female NSCLC was significantly higher than that of male NSCLC (P=0.001).The observed incidence of EGFR mutations in patients with adenocarcinomas (38.01%)was the highest in differ-ent histological type,followed by glandular squamous cell carcinoma (30.77%),large cell carcinoma (20%)and squamous cell carcinoma (4.55%).Nonsmoking patients had a higher EGFR mutation frequency (51.6%,81/157)than those with a history of smoking (24%,12/50).Conclusion ARMS assay was more sensitive and more convenient detection method for clinical screening for EGFR-TKI treatment subpopulation.The mutation rate of female NSCLC was significantly higher than that of male NSCLC in Hubei Province.Speculated that the sexual differences in NSCLC with EGFR mutation frequencies were related to hormone levels and smoking status.

13.
Article in Chinese | WPRIM | ID: wpr-481393

ABSTRACT

Objective To investigate the influence of synergistic effect of estradiol and testosterone on the level of lipids and coagulation function in mice with hyperlipidemia .Methods We established a maouse model in hyperlipidmia , giving estradiol (1 μg/d), testosterone (7 μg/d) or estradiol combined testosterone (1 μg/d E2 +7Tμg/d), respectively.After 14 weeks, we collected the blood from the mice , separated the serum to detect the lipids level , separated the plasma to test the coagulation function .Result Compared with controls , after high-fat diet , the serum level of total cholesterol ( TC) , triglyceride ( TG) , high density lipoprotein ( HDL) were significantly increased , PT and APTT were shorter ( P<0.05 ).However, after treating with estradiol combined testosterone , compared with cases, the serum level of C, TG and HDL were lower and PT , APTT were longer ( P <0.05 ), had no significance with controls . Conclusion The synergistic effect of estradiol and testosterone can mediate the lipids , reduce the level of LDL , regulate the coagulation function , reduce the risk of coronary heart disease , and also provide a new strategy for hormone therapy in coronary heart disease .

14.
Article in Chinese | WPRIM | ID: wpr-483808

ABSTRACT

@#Objective To summarize experience of nursing for thoracic breathing reconstruction in patients after cervical spinal cord in-jury (CSCI). Methods 6 cases accepting thoracic breathing reconstruction in our hospital from March 2013 to June 2014 were reviewed from 1 week before operation to 4 weeks after operation. Results All the patients, aged (41.7 ± 16.2) years, received tracheotomy (6.0 ± 5.8) days after injury because of weakened cough, retention of respiratory secretions and dyspnea;the ventilator was used for (45.3±25.9) days, and they received thoracic breathing reconstruction surgery (84±26.7) days after injury. Their vital capacity was (1085±92) ml before opera-tion and was (1680±283) ml 2 weeks after operation with 55%increment (P<0.01). Only 1 patient underwent a delayed wound healing. No pulmonary infection, urinary tract infections and pressure sore occurred until 4 weeks after operation. Conclusion Enhancement of airway care and prevention of pressure sore are the keys to reduce postoperative complications of thoracic breathing reconstruction.

15.
Article in Chinese | WPRIM | ID: wpr-602153

ABSTRACT

Objective To detect UGT1A1 gene promoter polymorphism with gene sequence method and analyze the distribu-tion of UGT1A1*28 and UGT1A1*6 gene polymorphism in Wuhan.Methods A total of 230 samples were collected from tumor patient in Medical Oncology Department of Renmin Hospital of Wuhan University from January 2013 to December 2014,then gene sequence of the target fragments were detected by Sanger sequencing method and analyzed patient UGT1A1 gene promoter polymorphism TA box.Results In this research examination 230 example tumor patient,198 patients (86.1%)were identified with TA6/TA6 genotype,29 patients (12.6%)were identified with TA6/TA7 genotype,3 pa-tients (1.3%)TA7/TA7 variant.Conclusion TA6/TA6 wild-typewas higher frequence in patients with malignant tumour in Wuhan.

16.
Article in Chinese | WPRIM | ID: wpr-599545

ABSTRACT

Objective To study the lipids related indicators ,high-sensitivity C-reactive protein(hs-CRP) ,FIB and D-dimer levels in cerebral infarction patients .Methods 259 cerebral infraction patients(cerebral infraction group) and 210 healthy individuals(con-trol group) were enrolled in the study .Plasma lipids related indicators such as TC ,TG ,HDL-C ,LDL-C ,ApoA1 ,ApoB ,ApoE levels were measured by enzymatic colorimetric assay .Quantitative fluorescence immunoassay was used to determine serum level of hs-CRP .FIB levels were determined by using coagulation method ,and D-dimer levels by using immune turbidimetric method .Results Compared with the control group ,the TG ,LDL-C ,ApoA1 ,ApoE and hs-CRP levels were significantly higher in the cerebral infarc-tion group(P0 .05) .Conclusion Lipids ,inflammation ,coagulation and fibrinolysis are closely relat-ed in the development of cerebral infarction ,and combined detection helps diagnose cerebral infarction .

17.
Article in Chinese | WPRIM | ID: wpr-602092

ABSTRACT

Objective To compare the differences of infect rates and genotype distribution of 21 kinds of human papillomavir-us (HPV)in women cervical cells in Quanzhou and Wuhan regions.Methods Collected gynecological clinic of 10 068 women in cervical cell specimens from November 2012 to January 2014 in Affiliated Quanzhou First Hospital of Fujian Med-ical University and Renmin Hospital of Wuhan University,of which 6 823 cases in Quanzhou,Wuhan region 3 245 cases were detected to identify HPV genotypes by using nucleic acid hybridization technique(HybriMax).Results 2 439 in 10 068 samples of cervical cells were detected to be infected HPV with overall infection rate of 24.23%(2 439/10 068).The overall HPV infection rate in Quanzhou was 22.61% (1 543/6 823),and 27.61% (896/3 245)in Wuhan.The single HPV infection rate in Quanzhou was 17.28% (1 179/6 823),and 19.88% (645/3 245)in Wuhan.The multiple HPV infection rate in Quanzhou was 5.33% (364/6 823),and 7.73% (251/3 245)in Wuhan (The values of P<0.05).The five most common HPV genetypes in Quanzhou was HPV-16,HPV-52,HPV-58,HPV-11 and HPV-CP8304,respectively,in Wuhan was HPV-16,HPV-52,HPV-58,HPV-33 and HPV-18,respectively.Conclusion The overall,single and multiple HPV infection rates in Wuhan were all markedly higher than those in Quanzhou (the values of P<0.05).The most common HPV gene-types in two regions were different.

18.
Article in Chinese | WPRIM | ID: wpr-432437

ABSTRACT

Objective To evaluate the value of detection of interleukin 28B (IL28B) rs12979860 by allele-specific PCR (AS-PCR) for the prediction of antiviral treatment hepatitis C patients.Methods One hundred seventy-four blood samples were random collected from hospitalized patients with hepatitis C,who came from department of infectious diseases,Renmin Hospital of Wuhan University from May 2011 to May 2012.Two pairs of specific primers were designed for rs12979860 gene polymorphisms,and one mutated base was introduced to the second or third site of the end of 3' with the reverse primer.rs12979860 gene polymorphism of 30 cases with hepatitis C was detected by AS-PCR,and gene sequencing was further used to verify the consistency of the two methods in parallel.Then,the frequency distribution of different rs12979860 genotypes with 174 cases were analyzed by the AS-PCR method in the population.Results The genotype CC,CT or TT of rs12979860 with 30 cases could be well identified by both AS-PCR and gene sequencing,and the coincidence rate was 100% (x2 =60.0,P < 0.01).Compared to gene sequencing,both of the sensitivity and specificity of AS-PCR were 100%.Compared to the control (CC genotype),TT genotype detection sensitivity by AS-PCR was 10-5,while sequencing sensitivity was 2 × 10-1.rs12979860 polymorphism in the TT,CC and CT genotype distribution in the Chinese population frequencies were 3.45% (6/174),13.2% (23/174) and 83.3% (145/174),respectively.Conclusion AS-PCR can quickly,accurate,reliable,economic and efficiently detect IL28B rs12979860 gene polymorphism of hepatitis C in patients,which could predict the effect of antiviral therapy on patients with hepatitis C.

19.
Article in Chinese | WPRIM | ID: wpr-429413

ABSTRACT

Objective To explore the mutation spectrum of breast and ovarian cancer susceptibility gene 1/2 (BRCA1/2) which was related to breast cancer in female residents of Wuhan,and assess the relation of gene mutation and risk of suffering breast cancer.Methods 128 cases of female individuals,including 58 cases of breast cancer after surgery,70 cases of benign breast disease,and 50 femal hcalthy volunteers were selected by simple randon sampling from Department of Breast Surgery of Renmin Hospital of Wuhan University.BRCA1/2 gene was sequenced and compared with the standard template sequence to explore the possible mutations.Results In the breast cancer group,mutation emerged in 11 cases and the mutation rate was 19.0% (11/58),including 8 cases of the BRCA1 gene mutations (3 cases of 185 del AG,5 case of 5382 ins C) and 3 cases of the BRCA2 gene mutations (2 cases of 6174 del T,1 case of C5773T) ; in the benign breast disease group,mutation emerged in 5 cases,the mutation rate was 7.1%(5/70),including 4 cases of the BRCA1 gene mutations (1 case of 185 del AG,3 cases of 5382 ins C),and 1 case of the BRCA2 gene mutation (6174 del T).There was no mutation detected in healthy control group.The mutation rate of the breast cancer group was significantly higher than that of benign breast disease group and healthy control group (x2 =4.05,10.56,P < 0.05); However,there was no significant difference between benign breast disease group and healthy control group (x2 =3.73,P >0.05).Conclusions The mutation of BRCA1 gene (185 del AG,5382 ins C) and BRCA2 gene (6174 del T,C5773T) is in the presence of female residents in Wuhan.Furthermore,the mutation in BRCA1/2 gene increases the risk of breast cancer.

20.
Article in Chinese | WPRIM | ID: wpr-429415

ABSTRACT

Objective To evaluate and analyze the clinical application value of detection of Warfarin-related gene polymorphisms,cytochrome P450 2C9 (CYP2C9) and Vitamin K epoxide reductase complex subunit 1 (VKORC1) polymorphisms.Methods From July of 2011 to July of 2012,the blood samples were randomly collected from 140 lung cancer patients from Department of Oncology in Renmin Hospital of Wuhan University.These lung cancer patients were diagnosed through imaging examination and pathological examination.CYP2C9 and VKORC1 polymorphisms were detected in 70 patients (studied group) but not detected in the other 70 patients (control group) before they used warfarin.According to known gene sequences of CYP2C9 and VKORC1,specific primers were designed to genotype the CYP2C9 *2 and CYP2C9 * 3 alleles as well as the VKORC1-1639G > A polymorphism through PCR amplification and DNA sequencing.Meanwhile,the distribution of these alleles in the studied group was analyzed.The clinical significance of detection of these polymorphisms was evaluated by comparing the proportion of patients within the therapeutic INR (International Normalized Ratio) range between control and genotype-guided dosing groups using Chi square test after 2 and 4 weeks of Warfarin therapy.Results Based on the results of agarose gel electrophoresis of PCR products and DNA sequencing,the primers for CYP2C9 and VKORC1 polymorphisms were indeed specific to these SNPs (CYP2C9 * 1,CYP2C9 * 2 and CYP2C9 * 3 ;VKORC1-1639GG,VKORC1-1639AG and VKORC1-1639AA) and both of the specificity and sensitivity of these primers are 100%,thus contributiug for genotyping these alleles.The distribution of CYP2C9 * 1/* 1 was 100%,CYP2C9 * 1/* 2,CYP2C * 1/* 3,CYP2C9 * 2/* 2,CYP2C9 * 3/* 3 and CYP2C9 * 2/* 3 were 0%.The distribution of VKORC1-1639AG,VKORC1-1639AA and VKORC1-1639 GG were 10%,90% and 0% respectively.2 weeks after the treatment of Warfarin,85.7% patients in the genotype-guided dosing group reached the stable therapeutic INR range,which was significantly higher than that in the control group (48.6%,x2 =21.9,P < 0.01); 4 weeks later,all patients (100%) were inside the stable therapeutic INR range whereas only 65 patients (92.9%) in the control group reached the therapeutic INR range.No haemorrhage or thromboembolic events occurred in both groups.Conclusions CYP2C9 and VKORC1 polymorphisms can be accurately detected by PCR reaction with the designed primers and the subsequent DNA sequencing in patients with lung cancer.This method is validated to be reliable.The genotyping of the Warfarin-related genes detective method can effectively guide Warfarin-dosing.

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