Mycobacterium tuberculosis is the causative agent of human tuberculosis. Through the genotyping of Mycobacterium tuberculosis, we can find the epidemic situation and characteristics of tuberculosis in time, analyze the transmission chain between patients in different jurisdictions, and formulate effective intervention measures in time, to provide a strong basis for clinical diagnosis and treatment. At present, several genotyping techniques for Mycobacterium tuberculosis have their advantages and disadvantages in application. This article reviews the genotyping technology, population genetics and genotyping naming rules of Mycobacterium tuberculosis.
ObjectiveTo investigate the association between tumor necrosis factor (TNF)-α gene polymorphism and susceptibility to chronic obstructive pulmonary disease (COPD) in eastern Heilongjiang province.MethodsA total of 347 COPD patients in the Department of Respiratory Medicine, the First Affiliated Hospital of Jiamusi University, were enrolled from January 2016 to January 2017. In the same period, 338 healthy subjects in the hospital physical examination center were selected as controls. The genotype of the two groups was analyzed by high resolution melting (HRM) and gene sequencing. The genotype and allele probability of the two groups were compared and analyzed by the SHEsis genetic imbalance haplotype analysis.ResultsBoth TNF-a –308 G/A co-dominant model and recessive model have significant differences between COPD patients and healthy subjects (P=0.036, OR 1.512, 95%CI 1.023 – 2.234; P=0.027, OR 1.202, 95%CI 1.024 – 1.741). –850G/A co-dominant model (P=0.000, OR 1.781, 95%CI 1.363 – 2.329), dominant model (P=0.000, OR 0.391 7, 95%CI 1.363 – 2.329) and hyper-dominant model (P=0.000, OR 2.680, 95%CI 1.728 – 4.156) in the two groups were statistically different. The haploid analysis and haploid genotype analysis showed statistically significant differences (all P<0.05, OR>1, 95%CI>1) at +489, –308, –850 sites by allele A, G, A, respectively between the two groups. There was a significant difference in the lung function between the –308G/A, –863C/A mutant genome and the wild type (P=0.038, P=0.02) in COPD patients according to the classification of lung function.ConclusionsA allele in TNF-α –308 and G allele in TNF-α –850 locus may be risk factors for COPD in the eastern Heilongjiang Province, and the risk of homozygous genotype is higher. +489A, –308G and –850A respectively may be the predisposing factor of COPD while the three genotypes of AGA patients were at higher risk. TNF-α –308 A allele and –863 A allele are related to lung function deterioration, and the two sites with A allele in patients with COPD indicate poor lung function.
Objective To summarize the advancement of breast cancer stem cells and genotyping and analyze the correlation between the two. Methods Relevant literatures about breast cancer stem cells and genotyping, which were published recently were collected and reviewed. Results Cancer stem cell origin theory was supported by researches of correlation between breast cancer stem cells and genotyping, which also explained the complexity of intrinsic subtypes and heterogeneity of breast cancer. Conclusions A new way can be detected to study the formation mechanism and biological characteristics of breast cancer at the cellular and molecular level by researches of correlation between breast cancer stem cells and genotyping, which are expected to provide new strategies and tools for diagnosis and treatment of breast cancer.
Objective To investigate HCV genotypes in HCV patients in West China Hospital of Sichuan University, and to analyze the major genotypes and clinical characteristics. Methods From March 2011 to September 2016, 4 520 HCV patients who were successfully genotyped HCV genotypes were enrolled in West China Hospital of Sichuan University. The genotypes distributions and the characteristics of laboratory characteristics of liver function, the viral loading were all analyzed. In addition, the genotypes in HCC patients, liver cirrhosis, HBC/HCV co-infection were also analyzed. Results HCV genotypes of HCV patients were divided into five genotypes of 1, 2, 3, 4, 6 and 23 subtypes, including predominant genotypes/subtypes 1b, 1*, 3b, 2a, 3a and 6a, accounting for 66.42%, 8.01%, 6.57%, 4.54%, 4.29%, and 3.41%, respectively. Subtype 1b was the predominant subtype for both sex. In male patients, the levels of ALT were highest in 6a subtype, while in female, the levels of ALT were highest in 3a subtype. For the 94 liver cirrhosis patients, 42 patients were 1b subtypes; as for the 6 HCC patients, 1b and 3b subtypes were the only detected. Conclusion HCV genotypes/subtypes of HCV patients in West China Hospital of Sichuan University have unique characteristics of distribution, while the predominant genotype/subtypes are 1b,1*, 3b, 2a, 3a, 6a.
Objective To detect human papilloma virus (HPV) typing in wart tissue of patients with condyloma acuminatum (CA) in Sichuan, understand the characteristics of CA, HPV infection and subtype distribution, and provide theoretical basis for formulating prevention and control strategy and further screening cervical malignant lesions. Methods HPV typing was performed in patients diagnosed with CA between January 1, 2018 and December 31, 2023 in the Department of Dermatology & Venereology of West China Hospital of Sichuan University by polymerase chain reaction capillary electrophoresis fragment analysis. The overall positive rate of HPV infection, distribution of HPV subtypes and infection characteristics were analyzed and calculated. The positive rate of HPV in different sex, age, and immune status were analyzed. Results A total of 1 741 patients were included. Among them, there were 1 527 cases of pure CA and 214 cases of CA with immune deficiency; 1 264 cases were HPV positive, with a positivity rate of 72.60%. The overall positive rate of HPV in male patients was higher than that in female patients [76.83% (713/928) vs. 67.77% (551/813); χ2=17.875, P<0.001]; 1155 cases of low-risk HPV infection were detected; the low-risk subtypes with the highest positivity rates were HPV type 6 [690 cases (39.63%)] and HPV type 11 [456 cases (26.19%)]. Among the 1 264 HPV-positive patients, 773 patients were infected with a single HPV subtype, and 491 patients were infected with multiple HPV subtypes. Among the 1 155 patients infected with low-risk HPV, 357 patients (30.91%) were co-infected with high-risk HPV, of whom 79 patients (6.84%) were co-infected with HPV16 and/or HPV18. Among the 214 CA patients with immune deficiency, females were more than males (135 vs. 79 cases; χ2=26.322, P<0.001). Among the 1 527 patients with simple CA, males were more than females (849 vs. 678 cases; χ2=20.927, P<0.001). There was no statistically significant difference in the HPV infection rate, double or more type infection rate, or combined high-risk HPV infection rate in CA patients with immunosuppression compared with that in simple CA patients (P>0.05). Conclusion The results of HPV infection analysis in CA patients in Sichuan area emphasize the necessity of HPV typing detection in CA patients, which not only helps to monitor the efficacy and recurrence of positive patients after treatment, but also can detect patients with high-risk HPV co-infection, providing theoretical basis for further screening and prevention and control of cervical cancer and other HPV-related diseases in these patients.
ObjectiveTo analyze hepatitis B virus (HBV) genotype distribution and drug-resistant mutations in West China Hospital of Sichuan University, providing basis for hepatitis B individualized treatment.MethodsA total of 786 chronic hepatitis B patients admitted to West China Hospital of Sichuan University from January 2016 to December 2018 were enrolled in the study. Genotype and drug-resistant mutations were analyzed by Sanger sequencing, and statistical analysis was conducted by χ2 test.ResultsThree genotypes (B, C and D) were identified in 786 samples, 489 (62.2%) in genotype B, 291 (37.0%) in genotype C , and 6 (0.8%) in genotype D. The distribution differences of B and C genotypes in age and ethnic groups were statistically significant (P<0.05). Among them, 627 cases had drug-resistant mutations, with a drug-resistant mutation rate of 79.8%. A total of 262 cases (33.3%) were resistant to lamivudine and tibivudine, 102 cases (13.0%) were resistant to lamivudine, tibivudine and entecavir; 83 cases (10.6%) were resistant to adefovir dipivoxil. No tenofovir resistant strains were detected in 786 samples. There were statistically significant differences in drug resistance between B and C genotypes (χ2=14.356, P<0.01). The most common single mutation was M204I [179 cases (22.8%)], followed by 46 cases (5.9%) of A181V/T associated with adefovir dipivoxil resistance. The most common mixed mutation was L180M+M204V/I in 83 cases (10.6%), and another 102 cases (13.0%) showed M250V and/or V173L and/or T184A/G/S/I and/or S202G/I with L180M+M204V/I.ConclusionsHBV genotypes in West China Hospital of Sichuan University are mainly B and C, and the situation of drug resistance is severe and the mutation pattern is complex. Therefore, detecting HBV genotype and drug resistance mutation is necessary, which may develop better clinical treatments.
ObjectiveTo investigate the relationship between the CYP3A5 genotyping and the drug metabolism of tacrolimus after operation in adult liver transplantation.MethodsNinety-eight adult patients with liver transplantation in Tianjin First Center Hospital were selected as subjects. The blood samples of liver transplantation recipients and donor were collected before operation, and then tested the CYP3A5 genotyping by PCR method. The weekly body mass, tacrolimus dose, and drug valley concentration of the patients were monitored in 1, 2, 3, and 4 weeks after operation, to calculate the tacrolimus concentration/dose ratio. And then compared the effects of different genotyping of donor and receptors on tacrolimus concentration/dose ratio.ResultsIn the CYP3A5 genotyping of 98 patients with liver transplantation and the corresponding donors, GG type was the most and AA type was the least, the distribution of alleles was in accordance with the genetic law, and the difference was not statistically significant (P>0.05). According to the donor genotype, the results showed that there was a significant correlation between tacrolimus concentration/dose ratio and donor or recipients CYP3A5 genotype at 1, 2, 3, and 4 weeks after liver transplantation, and there was significant difference among the three groups (P<0.05): GG>AG>AA. According to the combined grouping of donor and receptor genotype, the results showed that there was significant difference in tacrolimus concentration/dose ratio among A*/A*, A*/GG, GG/A*, and GG/GG group (P<0.05), while there was significant difference in tacrolimus concentration/dose ratio between GG/GG and A*/A* group (P<0.01), the tacrolimus concentration/dose ratio was highest in GG/GG group and lowest in A*/A* group.ConclusionsThe CYP3A5 genotyping of the recipient and donor can affect the blood concentration of tacrolimus after liver transplantation, and the CYP3A5 GG genotype is more likely to reach the target plasma concentration than the other genotypes, that the detection of donor and recipient CYP3A5 genotype in patients with liver transplantation can provide a reference for individualized treatment of tacrolimus after liver transplantation.