Q192R variant in paraoxonase 1 gene confers susceptibility to leiomyoma

Objective: Paraoxonase 1 (PON1) plays a defensive role against oxidative stress by destroying oxidized lipids. Q192R single nucleotide polymorphism of PON1 gene alters the enzyme's activity. Several investigations reported a link between Q192R and an increased risk of developing tumors including uterine leiomyomas. We assessed the antioxidant effects of Q192R on myoma which fluctuate in frequency between populations. Study Design: The cohort consisted of 68 unrelated uterine leiomyoma patients and 93 healthy controls that were randomly selected from women with no ultrasonographic evidence of myoma. Materials and Methods: Genotyping was performed using tetra-primer amplification refractory mutation system-polymerase chain reaction. Chi-square test was selected to evaluate differences between the groups. Results: To analyze the correlation between PON1 Q192R and leiomyoma risk, the AA genotype was given as a reference genotype then the two other genotypes were compared with the reference. A significantly (P < 0.05) increased risk of myoma was observed with both Q192R homozygote GG and heterozygote AG genotypes. The odds ratio (OR) of AG genotype was calculated 1.8 (confidence interval [CI]: 0.94–3.62). A higher OR was seen with GG genotype (OR: 2.8; 95% CI: 0.98–8.18). Conclusion: Oxidative stress has been suspected of having a link with tumor development, and the role of endogenous-free radical scavenger is taken into consideration. Increased protein oxidative stress status and reduced antioxidant capacity have been observed in leiomyomas patients. Our study indicates that the low-antioxidant PON1 R192 allele correlates to leiomyoma development

Evaluation of thrombospondin�gene polymorphisms in corneal allograft rejection in Asian Indian patients

Purpose: To evaluate the frequency and the association of Thrombospondin 1 (THBS1) gene single nucleotide polymorphisms (SNPs) in Asian Indian patients with optical full thickness corneal grafting surgery. Methods: Prospective case朿ontrol analysis of optical penetrating keratoplasty patients with and without immune rejection and controls for genotyping of 3 THBS1 gene SNPs (rs1478604 A>G; rs2228261 C>T; rs2228262 A>G) by Amplification Refractory Mutation System-Polymerase Chain Reaction (ARMS PCR). Results: Among 58 patients [45 with immune allograft rejection (DNA isolation was possible in 38 samples) and 13 without immune corneal allograft rejection] and 65 controls, allele frequencies observed for rs1478604 (A>G) are A: 69.7% and 72.6%, G: 30.2% and 27.3%; for rs2228261 (C>T) are T: 70.2% and 62.3%, C: 29.7% and 37.6%; and for rs2228262 (A>G) A: 97.4% and 98.4%; G 2.5% and 1.5% respectively. Genotype frequencies were rs1478604 (A>G) AA: 57.8% and 59.3%, AG 23.6% and 26.5%; GG 18.4% and 14%; for rs2228261 (C>T) TT: 40.5% and 33.8%, TC: 59% and 56.9%, CC: 0% and 9.2%; for rs2228262 (A>G) AA: 94.8% and 96.8%, AG: 5.1% and 3.1% in rejection and controls respectively. The allele and genotype frequency for the 3 described THSB1 SNPs did not show any difference between the corneal graft immune rejection patients and controls. Conclusion: Asian Indian population evaluated for THBS1 gene SNPs by ARMS PCR genotyping in Asian Indian population did not show any genetic association to immune rejection occurrence in our study.

Detection of EGFR gene mutation in periphral blood of NSCLC patients in Yunnan by Super-ARMS and its clinical significance / 中国肿瘤生物治疗杂志

@#Objective: To detect the mutation of epidermal growth factor receptor (EGFR) gene in peripheral blood of non-small cell lung cancer (NSCLC) patients in Yunnan area with Super-ARMS, and to explore its correlation with clinicopathological characteristics. Methods: A total of 222 blood samples from patients with NSCLC were collected between January 2017 to December 2018 in the Molecular Diagnostic Center of Yunnan Cancer Hospital. The EGFR gene mutation in peripheral blood samples was detected by SuperARMS, and the relationship between EGFR gene mutation and clinicopathological features was analyzed. Meanwhile, the independent risk factors influencing EFGR mutation were also analyzed. Results: In the peripheral blood of 222 NSCLC patients, there were 81 cases (36.5%) with EGFR gene mutation. Among them, exon 19 deletion and L858R gene point mutation were the most common (75.3% of total mutation); female patients had a higher mutation rate than male patients (45.9% vs 27.0%); patients <60 years old had a higher incidence of mutation than patients≥60 years old (43.2% vs 28.8%) (P<0.05 or P<0.01); moreover, patients with no history of smoking, no history of radical surgery, adenocarcinoma, advanced stage and no history of chemotherapy had higher incidence of EGFR mutation (43.9% vs 21.6%, 39.2% vs 21.2%, 43.9% vs 4.8%, 39.7% vs 23.3% and 44.0% vs 23.5%) (P<0.05 or P<0.01). Multivariate logistic analysis showed that young, no smoking history, adenocarcinoma and no surgical history were independent risk factors for EGFR gene mutation (all P<0.01). Conclusion: In the peripheral blood of patients with NSCLC in Yunnan, the mutation rate of EGFR gene is higher in patients with age<60 years old, adenocarcinoma and non-smoking. Super-ARMS method is more sensitive in the detection of EGFR mutation in peripheral blood of lung cancer patients.

BRAFV600E mutation in hairy cell leukemia: A single-center experience

Background: BRAFV600E mutation has been reported as a unique genetic lesion of hairy cell leukemia (HCL), a subset of which lacks this lesion and shows adverse outcomes. Aims: To determine the prevalence of BRAFV600E in HCL from our center and derive clinicopathological correlation, if any. Materials and Methods: A 9-year retrospective analysis of 46 consecutive cases of HCL diagnosed on morphology and immunophenotyping was done. Stained smears were used as samples for amplification refractory mutation system polymerase-chain reaction using fluorescent primers for mutation detection. Results: BRAFV600E mutation was detected in 41/46 patients (89.1%) while absent in control samples of chronic lymphocytic leukemia. Cases mimicking HCL-variant clinically or immunophenotypically too showed the presence of this mutation. HCL with mutated BRAF presented at a younger age. No statistical difference in blood counts, tumor load, and immunophenotype patterns existed among BRAF mutated and unmutated group. Nine patients (45%) with mutated BRAF had residual disease following treatment with cladribine. Conclusion: BRAFV600E mutation analysis has a definitive role in the diagnosis of HCL.

Detection of EGFR Gene Mutation in Lung Adenocarcinoma by ARMS and Its Clinical Significance / 现代检验医学杂志

Objective To investigate the efficacy and clinical significance of amplification refractory mutation system (ARMS)in epidermal growth factor receptor (EGFR) gene mutation in lung adenocarcinoma.Methods Collected 566 specimens of lung adenocarcinomia in pathology from Department of the First Affiliated Hospital of Xi'an Jiaotong University from January 2015 to August 2016.As the research object,which included 34 cases of pleural cell specimens,401 cases of lung biopsy specimens and surgical specimens from 131 patients with ARMS to complete the above specimens EGFR gene mutation detection,analysis of EGFR gene mutations associated with non-small cell lung cancer patients clinical data.Results Among 566 cases of lung cancer specimens,the EGFR mutation rate of 239 cases of patients with smoking had no obvious correlation with age,gender and surgical methods(P＞0.05),but primary lung site was closely related (P＜0.05),and EGFR mutation rate of 327 cases of patients with non smoking had no obvious correlation withage,sex,operation mode and primary lung site (P＞0.05).Conclusion ARMS is an ideal method for the detection of EGFR gene mutation in non-small cell lung cancer.Smoking is a great influence on EGFR mutation rate in both lung tissue,and for right lung tissue is more dramatic.

Applicable Value of AMSS-PCR in Lung Cancer Gene Mutation Detection / 中国肺癌杂志

BACKGROUND@#The detection of driver oncogenes of lung cancer is of great importance. There are various gene detection techniques nowadays which are different from each other. We carried out this study to investigate the specificity and sensitivity of assay panels based on an Amplification Refractory Mutation System-polymerase chain reaction (ARMS-PCR) technique of Amplification Mutation Specific System (AMSS) in detection of lung cancer gene mutation. To estimate the applicable value of assay panels in clinical settings.@*METHODS@#We collected cancer tissue specimens or fluid specimens from 309 patients. Mutation results were presented for those samples previously detected by ARMS-PCR. In comparison, we carried out AMSS-PCR using (epidermal growth factor receptor, EGFR) assay panel and Six-Alliance assay panel as well as Sanger sequencing. Software SPSS 22.0 (SPSS IBM) was used for statistical analysis.@*RESULTS@#The rates of consistency between the results by assay panels and Sanger sequencing or ARMS-PCR were 97.41% and 97.73%, respectively. Besides, EGFR assay panel had higher consistency rates with other detection methods than Six-Alliance assay panel. As for consistency test, the Kappa values of assay panels with Sanger sequencing, assay panels with ARMS-PCR, and ARMS-PCR with Sanger sequencing were 0.946, 0.953, and 0.913, respectively. The receiver operating characteristic curve (ROC) area under curve (AUC) of assay panels was 0.976 referring to Sanger sequencing, and 0.975 as ARMS-PCR was referred to.@*CONCLUSIONS@#AMSS-PCR can make an optimal cancer gene mutation detection method for clinical settings.

Feasibility of amplification refractory mutation system in fast detection of clarithromycin resistance of Helicobacter pylori in gastric mucosa / 中华消化杂志

Objective To evaluate the feasibility of the combination of amplification refractory mutation system (ARMS) and quantitative real-time polymerase chain reaction (PCR) method in fast detection of clarithromycin resistance of Helicobacter pylori (H.pylori) in gastric mucosa.Methods A total of 150 gastric mucosal specimens with positive H.pylori culture were collected from the H.pylori positive patients who failed in H.pylori eradication from January to August in 2013.The drug resistant gene mutation types of H.pylori in these samples were detected by quantitative real-time PCR based on ARMS.And the accuracy was confirmed by sequencing.The clarithromycin resistance of H.pylori was determined by E-assay.Chi-square test was used for statistical analysis.Results Among 149 gastric mucosal specimens (one specimens without wild type or mutation type had been eliminated),the results of quantitative real-time PCR based on ARMS of two samples were not consistent with the results of sequencing;the consistent rate was 98.7％ (147/149).Among 149 specimens with positive H.pylori culture,104 samples (69.8％) were clarithromycin resistance.In 101 samples the clarithromycin resistance was detected by quantitative real-time PCR based on ARMS;the consistent rate was 97.1％ (101/104).Both E-assay and clarithromycin resistant rate detected by E-assay or quantitative real-time PCR based on ARMS was 69.8％ (104/149) and 67.8％ (101/149),respectively,and the difference was not significant (x2 =0.141,P=0.932).Conclusion The combination of ARMS and quantitative real-time PCR method in fast detection of clarithromycin resistance of H.pylori in gastric mucosa is strongly feasible and highly consistent has high consistent rate with sequencing and E-assay.

Feasibility of amplification refractory mutation system in fast detection of clarithromycin resistance of Helicobacter pylori in gastric mucosa / 中华消化杂志

Objective To evaluate the feasibility of the combination of amplification refractory mutation system (ARMS) and quantitative real-time polymerase chain reaction (PCR) method in fast detection of clarithromycin resistance of Helicobacter pylori (H.pylori) in gastric mucosa.Methods A total of 150 gastric mucosal specimens with positive H.pylori culture were collected from the H.pylori positive patients who failed in H.pylori eradication from January to August in 2013.The drug resistant gene mutation types of H.pylori in these samples were detected by quantitative real-time PCR based on ARMS.And the accuracy was confirmed by sequencing.The clarithromycin resistance of H.pylori was determined by E-assay.Chi-square test was used for statistical analysis.Results Among 149 gastric mucosal specimens (one specimens without wild type or mutation type had been eliminated),the results of quantitative real-time PCR based on ARMS of two samples were not consistent with the results of sequencing;the consistent rate was 98.7％ (147/149).Among 149 specimens with positive H.pylori culture,104 samples (69.8％) were clarithromycin resistance.In 101 samples the clarithromycin resistance was detected by quantitative real-time PCR based on ARMS;the consistent rate was 97.1％ (101/104).Both E-assay and clarithromycin resistant rate detected by E-assay or quantitative real-time PCR based on ARMS was 69.8％ (104/149) and 67.8％ (101/149),respectively,and the difference was not significant (x2 =0.141,P=0.932).Conclusion The combination of ARMS and quantitative real-time PCR method in fast detection of clarithromycin resistance of H.pylori in gastric mucosa is strongly feasible and highly consistent has high consistent rate with sequencing and E-assay.

Relationship between EGFR gene mutation and clinicopathological features in peripheral blood of patients with non-small cell lung cancer in Yunnan area / 临床与实验病理学杂志

Purpose To investigate the prevalence of EG-FR mutation in circulating cell-free DNA in non-small cell lung cancer (NSCLC) patients of Yunnan province and its relationship with clinical pathological characteristics,which can provide foundations for individualized targeted therapy of lung cancer in this area.Methods Amplification refractory mutation system (ARMS) was used to detect the EGFR exon 18,19,20 and 21 mutation in circulating cell-free DNA.The relationship between EGFR mutation and clinical characteristics were further analyzed.Results 93 patients (25.5％) harbored circulating EG-FR mutations among 364 patients.The mutation rates of EGFR 18 G719X,19del,20 S768I,T790M,20ins were 3.2％ (3/93),2.2％ (2/93)and3.2％ (3/93)respectively.EGFR21 L858R and L861Q mutation rates were 26.9％ (25/93) and 1.1％ (1/93),respectively.Three patients (3.2％,3/93)harbored G719X + S768I double mutation,four patients (4.3％,4/93) harbored 19Del + T790M mutations.19Del +L858R,L858R + S768I,and S768I + T790M mutation rates were 1.1％ (1/93),1.1％ (1/93) and 2.2％ (2/93) respectively.Conclusion The EGFR mutation rate of female and adenocarcinoma patients is higher in patients with stage Ⅲ B-ⅣNSCLC in Yunnan area.19Del is the major mutation type and double exon mutation is an obvious characteristic in NSCLC patients of Yunnan province.EGFR mutation detection in circulating cell-free DNA by ARMS method is feasible to screen patients receiving EGFR-TKIs treatment.

EGFR mutations detection in non-small cell lung cancer liquid based cytology samples by ARMS method / 临床与实验病理学杂志

Purpose To explore the application and characteristics of liquid-based cytology samples of non-small cell lung cancer for detection of EGFR mutations by ARMS method.Methods The positive samples of liquid-based cytology were collected and the DNA of samples was extracted to detect the EGFR mutations by ARMS method and the analyze the association with clinical features,types of samples,pathological types and the contents of tumor cells,etc.Results There were 117 genetic mutations detected in 279 liquid-based cytology specimens,with the mutation rate of 41.9％.The mutation rate of adencarcinoma was 44.7％ and the other was 11.3％.When the tumor ceils in cytology samples were abundant,medium,small clusters and few,EGFR gene mutation rate were 53％,44％,45％ and 44％ respectively.19Del was 51.9％.Exon 21L858R missense mutation occurred at 39.4％ of EGFR mutations.Conclusion All liquid-based cytology of non-small cell lung cancer samples are adequate for EGFR mutation analysis.In the tumor cell-rich samples EGFR gene mutation rate is higher than that of the less tumor cells samples.19Del is the most common type of EGFR mutations.

Clinical significance of detection for mutated BRAF gene in thyroid nodules based on amplification refractory mutation system / 中国耳鼻咽喉头颈外科

OBJECTIVE To explore the feasibility of detection for mutated BRAF V600E gene based on amplification refractory mutation system(ARMS),and to evaluate its clinical significance of BRAF V600E gene mutation in thyroid nodules.METHODS The method of ARMS was used to detect BRAF V600E mutation status in 179 patients with PTC and 115 patients with benign lesions.The diagnosis index of BRAF V600E mutation status for identifying the nature of the thyroid nodule was calculated.The potential correlation between BRAF V600E mutation and PTC clinicpathological characteristics was also analyzed.RESULTS Detection of BRAF V600E mutation status in thyroid lesions based on ARMS was feasible and believable.The positive rate of mutated BRAF V600E gene in PTC was 82.68％,whereas the rate in benign lesions was only 1.74％,indicating statistical differences between the two groups(x2=183.568,P＜0.01).The diagnostic sensitivity of BRAF V600E mutation was 82.68％,specificity was 98.26％,accuracy was 88.76％,and Youden index was 0.8094.There was no associations between the BRAF V600E mutation status and PTC clinicpathological characteristics(eg.gender,age,tumor size,numbers of lesions,bilateral lesions,extrathyroidal extension and lymph node metastasis).CONCLUSION Detection of BRAF V600E mutation based on ARMS has higher sensitivity and specificity in distinguishing PTC from benign lesions,indicating BRAF V600E gene is an ideal marker of PTC for clinical early diagnosis.

Detection of hepatitis B virus A1762T/G1764A mutant by amplification refractory mutation system

OBJECTIVE: To study the role of hepatitis B virus with A1762T/G1764A double mutation in liver cirrhosis and hepatocellular carcinoma, and create a sensitive, fast, accurate assay for detection of A1762T/G1764A double mutation. METHODS: We developed an accurate and fast real-time amplification refractory mutation system to detect A1762T/G1764A double mutation. Cloned hepatitis B virus genome was used as a control. Assay sensitivity was determined by serial dilution and mixed template experiments. Specificity was determined by cross experiments with wild and mutant hepatitis B virus. Fifty clinical samples were tested by the real-time amplification refractory mutation system and the results were compared with sequencing. RESULTS: The real-time amplification refractory mutation system had a sensitivity of 100 copies of virus with these mutations, and 0.1% weak population virus with double mutation could be found in mixtures. A total of 50 randomly collected clinical samples were detected by real-time amplification refractory mutation system, and the results were consistent with those by DNA sequencing. Hepatitis B virus genotype C was more prevalent in 39 of 50 samples than genotype B (11 samples), and about 75% of genotype C carried a double mutation compared to 45% of genotype B. However, the percentage of A1762T/G1764A double mutation in hepatitis B e antigen-negative (58.3%) samples was almost the same as in hepatitis B e antigen-positive (61%) samples. CONCLUSION: The real-time amplification refractory mutation system is sensitive and specific for detection of hepatitis B virus double mutation. .

Comparison of BRAF mutation detection in patients with papillary thyroid microcarcinoma by ARMS and direct sequencing / 中国免疫学杂志

Objective:To investigate the sensitivity and the specificity of scorpions amplification refractory mutation system ( ARMS) in comparing with that of direct DNA sequencing in the detection of BRAF gene mutations in patients with papillary thyroid microcarcinoma.Methods:Direct sequencing and ARMS were used simultaneously to detect BRAF mutation status in 56 patients with PTMC.Results:BRAF mutations were identified in 46 cases with a mutation rate of 82.9%by ARMS,while in 18 cases with a mutation rate of 32.1%by direct sequencing.Besides,the sensitivity of ARMS was 100%and that of direct sequencing was 39.1%.There were significant differences of both mutation rate and sensitivity between two methods ( P<0.01 ).Conclusion: Compared to direct sequencing,ARMS gains a higher sensitivity in the detection of BRAF mutations in samples with tiny lesions.

Distribution of alpha thalassaemia in 16 year old Malaysian Students in Penang, Melaka and Sabah

Objectives: Alpha thalassaemia is wide spread in Malaysia and is a public health problem. This study aimed to describe the carrier frequencies of α‒thalassaemia and its distribution among major ethnic groups in three states of Malaysia. Methods: Educational forums were organised and study was explained to students from three schools. Students were invited to take part in the screening with parent consent. A total of 8420 adolescent students aged 16 years volunteered to participate in the study. Peripheral blood samples were analysed for complete blood counts, haemoglobin quantification and typing, and serum ferritin levels. Genomic DNA was used for screening alpha thalassaemia alleles by PCR based molecular methods. Results: We identified seven α‒globin gene defects in 341 (4.08%) students: amongst them α+‒ and α0‒thalassaemias were detected in 232 (2.77%) and 107 (1.28%) students respectively. Genotype ‒α3.7/αα was the most prevalent among sub-populations of Malay, indigenous communities of Sahab and Indian, while ‒‒SEA/αα deletion is more prevalent in Malaysian Chinese. It is estimated that 63 pregnancies annually are at risk of Hb Bart’s hydrops fetalis. Conclusions: We have demonstrated the prevalence and mutation patterns of α‒thalassaemia in the 16 year olds in three states of Malaysia. High α0‒thalassaemia deletions amongst the study subjects place these carriers at an increased risk of conceiving fetuses with HbH disease and Hb Bart’s hydrops fetalis should they choose another heterozygous partner. It is therefore highly recommended to institute community screening programmes and provide prospective carriers with genetic counselling to help them make informed choices.

The -308 and -238 Polymorphisms of the TNF-alpha Promoter Gene in Type 2 Diabetes Mellitus / 대한진단검사의학회지

BACKGROUND: Recently, two G->A polymorphisms at positions -308 and -238, in the promoter of the tumor necrosis factor-alpha (TNF-alpha) gene, have been identified. These variants have been linked to estimates of insulin resistance and obesity in different ethnic groups. The objective of the present study was to investigate whether these genetic variants of TNF-alpha were associated with features of the insulin resistance in two study populations comprising type 2 diabetic patients and healthy control subjects. METHODS: We analyzed the polymorphisms of TNF-alpha gene in 198 type 2 diabetes mellitus (DM) patients and 169 healthy control subjects. We used five primers and two separate polymerase chain reaction (PCR) to detect the TNF-alpha polymorphism by the multiplex amplification refractory mutation system (ARMS) technique. RESULTS: No statistically significant difference in the -308A and -238A allele frequencies was found between patients with type 2 DM and normal controls. CONCLUSIONS: Our study does not support a major role of the nucleotide -308 or -238 substitutions of the TNF-alpha gene in the pathogenesis of insulin resistance.

A Comparative Study of Apolipoprotein E Genotyping: INNO-LiPA ApoE Kit, Allelic Discrimination with LightCycler, and BioCore ApoE Kit / 대한진단검사의학회지

BACKGROUND: Apolipoprotein E (apoE) polymorphism is associated with the risk and the time of onset of Alzheimer's disease and the risk of developing cardiovascular disease. Therefore, much inter-est in apoE genotyping has been focused both for epidemiological research and for the purpose of diagnosing dyslipoproteinemia or dementia. The aim of our study was to compare and evaluate three different methods for apoE genotyping. METHODS: We chose 10 samples each of six different apoE genotypes determined by INNO-LiPA ApoE Kit (INNOGENETICS, Gent, Belgium) used as the first comparison method. The other two were a fluorescence resonance energy transfer assay that used real-time PCR on the LightCycler instrument (Roche Diagnostics, Mannheim, Germany) and BioCore ApoE Kit (BioCore, Seoul, Korea) using the multiplex Amplification Refractory Mutation System (ARMS). RESULTS: All six genotypes for apoE were clearly discernible with INNO-LiPA ApoE Kit, allelic dis-crimination with LightCycler, and BioCore ApoE Kit. We obtained a 100% concordance rate among the three methods. It took approximately 6.5 hours, 70 minutes, and 3 hours, respectively, but hands-on time took 3 hours, 45 minutes, and 1 hour. CONCLUSIONS: The INNO-LiPA allelic specific oligonucleotide probe method is accurate and reliable, but labor intensive and relatively time consuming. The LightCycler allelic discrimination method seems to be rapid, simple and accurate, suggesting that it may be used successfully for diagnostic purposes. The BioCore multiplex ARMS analysis is reliable, simple to perform, and less time consuming; this method also may be appropriate for determining the apoE genotypes in clinical laboratories.

Tumor Necrosis Factor Alpha Gene Polymorphisms in Schizophrenia / 대한진단검사의학회지

BACKGROUND: Schizophrenia may result from immune or inflammatory disorders, which are medi-ated by cytokines. Tumor necrosis factor-alpha(TNFalpha) is a pleotropic pro-inflammatory cytokine. Sequence polymorphism have been identified that could play a part in the transcriptional regula-tion of the gene. Two G -> A mutations in the promoter region of TNF alpha at position -308 (called the TNF2 allele) and -238 (TNFalpha 238A allele) have been described. In order to study whether polymor-phisms altering the function or expression of cytokine genes contribute to the pathogenesis of schizophrenia, we examined polymorphisms of TNF alpha genes in schizophrenic patients and com-pared them with those of healthy control subjects. METHODS: We analyzed the polymorphisms of TNF alpha genes in 80 schizophrenic patients and 100 healthy control subjects. We used five primers and two separate PCR reactions to detect the TNF alpha polymorphism by the multiplex amplification refractory mutation system (ARMS) technique. RESULTS: The frequencies of the TNF2 and TNF 238A allele in schizophrenic patients were 3.1% and 5.0% and in control subjects they were 5.0% and 6.0%. No statistically significant differences in TNF2 and TNF 238A allele frequencies were found among patients with schizophrenia and those under normal controls. CONCLUSIONS: These findings suggest that the investigated polymorphisms of TNF alpha promoter gene do not appear to play any significant role as genetic risk factors in schizophrenia.

Association of CD40 gene 5′UTR C(-1)T,-58038T and C64610G polymorphism with autoimmune thyroid disorders / 西安交通大学学报(医学版)

Objective To investigate polymorphism of CD40 gene and its relation with autoimmune thyroid disorders(AITD) in China's Northwest region.Methods The study recruited 372 subjects: 165 Graves' disease(GD) and 113 Hashimoto's thyroiditis(HT) and 93 healthy subjects as controls.① Using PCR-restriction fragment length polymorphism(PCR-RFLP) to analyze the C/T polymorphism in the 5′UTR and the-58038T point mutation in exon3.② Using amplification refractory mutation system-PCR(ARMS-PCR) to analyze the C64610G point mutation in exon9.Results ① There were significant differences in allele frequencies of C and genotype CC between GD group and control group in 5′UTR C(-1)T(P