1.Epidemiological characteristics of nasopharyngeal microbiota profiles in community children under 5 years in Haidong City, Qinghai Province
Hui ZHOU ; Zizhe GUO ; Xueyao LIANG ; Shuangfei XU ; Weibing WANG
Shanghai Journal of Preventive Medicine 2025;37(1):39-47
ObjectiveTo describe the characteristics of the nasopharyngeal microbiota in children under 5 years of age in Haidong City, Qinghai Province and analyze its associated factors, so as to provide basic data for the evolution and development of nasopharyngeal microbiota in children. MethodsA total of 230 community children from Haidong City, Qinghai Province were included in the study. Participants’ basic information was collected by local volunteers from parents/guardians at enrollment. 16S rDNA sequencing was used to identify the bacterial diversity and abundance of nasopharyngeal microbial community. Bioinformatics methods were used to analyze the characteristics of the nasopharyngeal microbiota, compare the differential species, and investigate the correlation with age. ResultsThere was no statistical difference in either Chao1 index or Shannon index of nasopharyngeal microbial communities among children with different ages (P>0.05). Besides, the structure of nasopharyngeal microbiota in children of different ages was different, either (P=0.020). Age, ethnicity and delivery mode, to some extent, could explain the differences in the structure of nasopharyngeal microbiota in children. There were statistically significant differences in the abundance of Dolosigranulum, Staphylococcus and Corynebacterium in the nasopharyngeal microbiota of children with different ages (P<0.05). Differential analysis revealed that Corynebacterium was found to be over-represented in children under 1 year of age, while Dolosigranulum was found to be over-represented in children between 2 and 3 years old. Furthermore, the results of correlation analysis showed that, Moraxella was positively correlated with Corynebacterium, Dolosigranulum and Streptococcus, but negatively correlated with Pseudomonas. In addition, a strong positive correlation was detected between the Dolosigranulum and Corynebacterium. ConclusionThe diversity of nasopharyngeal microbial community among children under 5 years in Haidong City, Qinghai Province is stable. However, there are differences in the species structure, mainly in the abundance difference of Dolosigranulum, Staphylococcus and Corynebacterium. This study provides basic data on the evolution and maturation of nasopharyngeal microbial communities in early childhood, which can provide a scientific basis for the early prevention and diagnosis of respiratory tract infections in children.
2.Role of the PTTG3P/miR-146a-3p/PTTG1 pathway in castration-resistant progression of prostate cancer
Shengquan HUANG ; Min JIA ; Chun ZHOU ; Yi ZHI ; Weibing LI
Chongqing Medicine 2025;54(11):2544-2551
Objective To investigate the role of the pituitary tumor-transforming gene 3(PTTG3P)/microRNA-146a-3p(miR-146a-3p)/pituitary tumor-transforming gene 1(PTTG1)pathway in the castration-resistant transformation of prostate cancer(PCa).Methods Real-time quantitative PCR(qPCR)was used to detect the differences in PTTG3P mRNA expression between androgen-dependent PCa cells LNCaP and cas-tration-resistant PCa(CRPC)cells PC3 and DU145,as well as between primary PCa tissues and CRPC tis-sues.PTTG3P overexpression vectors and PTTG1 interference vectors(shPTTG1)were constructed and transfected into LNCaP cells.The cells were divided into the LNCaP group(control),LNCaP/PTTG3P group(transfected with PTTG3P overexpression vector),and LNCaP/PTTG3P/shPTTG group(transfected with PTTG3P overexpression vector and shPTTG).Under castrated conditions,qPCR was used to detect the ex-pression levels of PTTG3P mRNA and miR-146a-3p in each group of LNCaP cells.Cell viability assays in vitro were conducted to assess the growth status of each group of LNCaP cells,colony formation assays were performed to evaluate the tumorigenic ability of each group of LNCaP cells,and Western blotting was used to detect PTTG1 protein expression levels in each group of LNCaP cells.To investigate the role of miR-146a-3p in the PTTG3P/PTTG1 pathway,LNCaP cells were transfected with a miR-146a-3p mimic to establish a miR-146a-3p mimic cell line,and then transfected with the PTTG3P overexpression plasmid to create a miR-146a-3p mimic+PTTG3P cell line.A luciferase reporter assay was conducted to verify the relationship between miR-146a-3p and PTTG1.Results Compared with androgen-dependent PCa cells LNCaP and treatment-naive PCa tissues,PTTG3P mRNA expression was higher in CRPC cells PC3,DU145,and tissues(P<0.05).Un-der castration conditions,the cell viability and colony formation ability of the LNCaP/PTTG3P group were higher than those of the LNCaP group(P<0.05);cell viability and colony formation ability in the LNCaP/PTTG3P/shPTTG group were lower than those in the LNCaP/PTTG3P group(P<0.05);miR-146a-3p ex-pression was lower in CRPC than in treatment-naive PCa tissues(P<0.05).Overexpression of miR-146a-3p inhibited PTTG1 expression in LNCaP cells,and overexpression of PTTG3P reversed this effect(P<0.05).Conclusion Overexpression of PTTG3P promotes the progression of PCa to CRPC through the miR-146a-3p/PTTG1 pathway.The mechanism may involve PTTG3P competitively binding to miR-146a-3p,thereby upreg-ulating PTTG1 expression.
3.Impact of the Size and Depth of Pulmonary Nodules on the Surgical Approach for Lung Resection in the Treatment of Early-stage Lung Cancer ≤2 cm
TANG ZAIBIN ; GE WENKE ; ZHOU DINGYE ; HE ZHICHENG ; XU JING ; PAN XIANGLONG ; CHEN LIANG ; WU WEIBING
Chinese Journal of Lung Cancer 2024;27(3):170-178
Background and objective Current studies suggest that for early-stage lung cancers with a component of ground-glass opacity measuring ≤2 cm,sublobar resection is suitable if it ensures adequate margins.However,lobectomy may be necessary for some cases to achieve this.The aim of this study was to explore the impact of size and depth on surgical techniques for wedge resection,segmentectomy,and lobectomy in early-stage lung cancer ≤2 cm,and to determine methods for ensuring a safe resection margin during sublobar resections.Methods Clinical data from 385 patients with early-stage lung can-cer ≤2 cm,who underwent lung resection in 2022,were subject to a retrospective analysis,covering three types of procedures:wedge resection,segmentectomy and lobectomy.The depth indicator as the OA value,which is the shortest distance from the inner edge of a pulmonary nodule to the opening of the corresponding bronchus,and the AB value,which is the distance from the inner edge of the nodule to the pleura,were measured.For cases undergoing lobectomy and segmentectomy,three-dimensional computed tomography bronchography and angiography(3D-CTBA)was performed to statistically determine the number of subsegments required for segmentectomy.The cutting margin width for wedge resection and segmentectomy was recorded,as well as the specific subsegments and their quantities removed during lung segmentectomy were documented.Results In wedge resection,segmentectomy,and lobectomy,the sizes of pulmonary nodules were(1.08±0.29)cm,(1.31±0.34)cm and(1.50±0.35)cm,respectively,while the depth of the nodules(OA values)was 6.05(5.26,6.85)cm,4.43(3.27,5.43)cm and 3.04(1.80,4.18)cm for each procedure,showing a progressive increasing trend(P<0.001).The median resec-tion margin width obtained from segmentectomy was 2.50(1.50,3.00)cm,significantly greater than the 1.50(1.15,2.00)cm from wedge resection(P<0.001).In wedge resections,cases where AB value>2 cm demonstrated a higher proportion of cases with resection margins less than 2 cm compared to those with margins greater than 2 cm(29.03%vs 12.90%,P=0.019).When utilizing the size of the nodule as the criterion for resection margin,the instances with AB value>2 cm continued to show a higher proportion in the ratio of margin distance to tumor size less than 1(37.50%vs 17.39%,P=0.009).The median number of subsegments for segmentectomy was three,whereas lobectomy cases requiring segmentectomy involved five subsegments(P<0.001).Conclusion The selection of the surgical approach for lung resection is influenced by both the size and depth of pulmonary nodules.This study first confirms that larger portions of lung tissue must be removed for nodules that are deeper and larger to achieve a safe margin.A distance of ≤2 cm from the inner edge of the pulmonary nodule to the nearest pleura may be the ideal indication for performing wedge resection.
4.Comparative study of native vertebral osteomyelitis and pyogenic postoperative and analysis of prognostic factors
Abudurexiti MAIMAITIAILI· ; Mardan MURADIL· ; Kelimu HUERXIDAN· ; Feihua YAN ; Maihesumu BAWUDONG· ; Abliz YAKUP· ; Samat XIRALI· ; Yang ZHOU ; Tao XU ; Mamat MARDAN· ; Weibing SHENG
Chinese Journal of Orthopaedics 2022;42(15):950-960
Objective:To compare the microbiology, clinical characteristics and therapeutic efficacy of native suppurative spondylitis (NVO) and postoperative suppurative spondylitis (PVO), and analyze the factors affecting the prognosis.Methods:All patients with suppurative spondylitis were retrospectively analyzed from December 2010 to December 2019. A total of 46 patients were enrolled in this study. They were divided into two groups. There were 30 cases in NVO group, 18 males and 12 females; The age was 50.47±20.45 years, aged 15-73 years. There were 16 cases in PVO group, 10 males and 6 females; The age was 52.13±18.80 years, aged 14-73 years. In group NVO, 23 cases (76.7%) were in lumbar vertebrae, 5 cases (16.7%) in thoracic vertebrae and 2 cases (6.7%) in cervical vertebrae; in group PVO, 11 cases (68.8%) in lumbar vertebrae and 5 cases (31.2%) in thoracic vertebrae. Twenty-eight patients had neurological dysfunction before surgery. There were 25 cases of grade D (16 cases in group NVO and 9 cases in group PVO) and 3 cases of grade C (1 case in group NVO and 2 cases in group PVO), following the instructions of American Spinal Injury Association (ASIA) neurological function classification. All patients were given bed rest, nutritional support and antibiotic therapy; surgical treatment for patients with poor outcomes or aggravated symptoms. The patients were followed up after operation, the observation indexes included leukocyte count, erythrocyte sedimentation rate and C -reactive protein to evaluate the postoperative curative effect. The internal fixation device was evaluated for looseness and fracture by imaging examination. At the same time, the changes of visual analogue scale, ASIA neurological function grade were recorded to evaluate the clinical efficacy.Results:Two patients in NVO group were treated with antibiotics, and all the other patients successfully completed the operation. The diseased tissues were sent for pathological examination during the operation. The results showed that they were diagnosed as suppurative spondylitis. All patients were followed up for 12-24 months. Both groups were treated with intravenous and oral antibiotics, and the time of antibiotic treatment in group PVO was longer than that in group NVO without significant difference ( t=1.74, P=0.088). The leukocyte, C-reactive protein, erythrocyte sedimentation rate, visual analogue scale (VAS), were significantly improved in both groups at different time points after operation ( P<0.05) . There was no significant difference in leukocyte, C -reactive protein, erythrocyte sedimentation rate or VAS score between the two groups at the same time point after operation ( P>0.05). The neurological function of patients after operation was significantly improved compared with that before operation. In group NVO, 16 cases recovered from ASIA grade D to grade E, 1 case from grade C to grade D; 9 cases in group PVO recovered from grade D to grade E and 2 cases recovered from grade C to grade D. Till the last follow-up, 3 patients in group NVO recurred, the recurrence rate was 10% (3/30); 7 patients in group PVO recurred, the recurrence rate was 43.8%; the recurrence rate of group PVO was higher than that of group NVO, the difference was statistically significant (χ 2=5.14, P=0.023). Among 39 patients with spinal internal fixation, 12.8% (1 NVO, 4 PVO) had recurrent infection after internal fixation. Therefore, re-operation was performed to remove the internal fixator for infection control, patients recovered after conservative treatment such as immobilization and systemic anti-infection By univariate analysis, multiple vertebral involvement and abscess formation ( OR=11.00, P=0.006; OR=9.00, P=0.047) were significantly associated with pyogenic spondylitis recurrence; there was a tendency for pyogenic spondylitis recurrence among microbial infection ( OR=1.87, P=0.416), spinal prosthesis ( OR=7.20, P=0.074) and allogenic bone ( OR=1.78, P=0.478), yet not obvious. Multivariate analysis indicated that multiple vertebral involvement ( OR=10.49, P=0.038) was a risk factor for pyogenic spondylitis recurrence. Conclusion:The treatment of PVO is more challenging than NVO, especially in the cases of spinal implant infection. Although the antibiotic treatment time of PVO is longer than that of NVO, the recurrence rate of PVO is higher. Longer antibiotic therapy and, if necessary, surgical debridement or removal of implants are important approaches to successful treatment of PVO.
5.Steroidogenic acute regulatory protein-related lipid transfer 4 (StarD4) promotes breast cancer cell proliferation and its mechanism.
Teng HUANG ; Rong SHAN ; Min ZHANG ; Ling LI ; Juan HUANG ; Baoan LIU ; Weibing ZHOU
Journal of Biomedical Engineering 2021;38(6):1118-1125
Oncogene StarD4 had the function of promoting proliferation and metastasis of triple-negative breast cancer (TNBC), but its clinical value and molecular mechanism are unknown. This paper found that StarD4 was highly expressed in cancer tissues of TNBC patients, and higher expression level of StarD4 in TNBC patient resulted in poorer prognosis. Based on transcriptomics of MDA-MB-231 cell model, the results of bioinformatics analysis showed that down-regulated expression level of StarD4 led to overall downregulation of cholesterol-relative genes and significant enrichment of cancer mechanism and pathway. Further analysis and investigation verified that StarD4 might cross-promote the protein stability of receptor ITGA5 through the cholesterol pathway to enhance TNBC progression, which provides guidance for clinical application of TNBC diagnosis and treatment.
Breast Neoplasms/genetics*
;
Cell Line, Tumor
;
Cell Proliferation
;
Female
;
Humans
;
Lipids
;
Membrane Transport Proteins
;
Phosphoproteins
6.Effect of proximal thoracic curve and main thoracic curve correction rate on postoperative shoulder balance in Lenke 1 adolescent idiopathic scoliosis
Samat XIRALI· ; Abliz YAKUP· ; Tao XU ; Abudurexiti MAIMAITIAILI· ; Yang ZHOU ; Kiram ERXAT· ; Ting WANG ; Mamat MARDAN· ; Weibing SHENG
Chinese Journal of Orthopaedics 2021;41(13):892-902
Objective:To investigate the effects of the correction rate of the proximal thoracic curve and main thoracic curve on postoperative shoulder balance in patients with Lenke1 type idiopathic scoliosis (AIS).Methods:Data of 50 patients with AIS who received posterior spinal deformity correction surgery from January 2013 to January 2020 and were followed up for more than 6 months were retrospectively analyzed, including 12 males and 38 females. The median age was 15 years (14,16) years (range 13 to 18 years). According to the clavicle angle (CA) absolute value >2° and 2.5° and 3° for shoulder imbalances standard, the patients were divided into the postoperative shoulder balance group and shoulder imbalance group. Main thoracic curve Cobb angle, proximal thoracic curve Cobb angle and clavicle angle (CA) were measured preoperative, postoperative and at the last follow-up, and the flexibility of proximal thoracic curve, the flexibility of main thoracic curve, correction rate of proximal thoracic curve, correction rate of the main thoracic curve and other indicators were calculated. Univariate analysis was conducted on the shoulder balance group's related indicators and the shoulder imbalance group, and correlation analysis was conducted with the postoperative shoulder balance and the last follow-up shoulder balance. Multivariate binary logistic regression was performed on statistically significant univariate factors to determine independent risk factors for postoperative shoulder imbalance and the last follow-up shoulder imbalance.Results:The median follow-up time of 50 patients was 18 months (11, 24) months (range 6-36 months). According to the three criteria of shoulder balance, the postoperative correction rate of the proximal thoracic curve in the shoulder imbalance group was significantly lower than that in the shoulder balance group. Under the standard of shoulder imbalance with CA absolute value >2° and 2.5°, there were significant differences in the postoperative correction rate of the main thoracic curve, and the postoperative correction rate of the main thoracic curve in the shoulder balance group was higher than that in the shoulder imbalance group. No matter which shoulder imbalance criteria were used, the postoperative correction rate of the proximal thoracic curve, the correction rate of the main thoracic curve, and the ratio of the correction rate of the main thoracic curve to the proximal thoracic curve was found to be correlated with the postoperative shoulder balance. Only in the group of CA absolute >3°, no correlation was found between the postoperative correction rate of the main thoracic curve and postoperative shoulder balance. The correlation between the correction rate of the proximal thoracic curve and shoulder balance was more significant in the three groups ( P<0.01). Logistic regression analysis showed that the postoperative correction rate of the proximal thoracic curve was an independent protective factor of postoperative shoulder balance ( P<0.05). A better postoperative shoulder balance can be obtained when the main thoracic curve/proximal thoracic curve correction rate was less than 1.5. However, at the last follow-up, no correlation was found between the correction rate and shoulder balance in all three groups. Binary logistic regression analysis showed that preoperative CA was a risk factor for the last follow-up shoulder imbalance. Conclusion:IIn patients with Lenke1 type AIS, the correction rate of the proximal thoracic curve, the correction rate of the main thoracic curve, and their ratio were correlated with postoperative shoulder balance. The matching of the amount of correction of the proximal thoracic curve and main thoracic curve can ensure postoperative shoulder balance, and the amount of correction of the proximal thoracic curve may be a protective factor of postoperative shoulder balance. However, for long-term shoulder balance, the effect of the proximal thoracic curve and main thoracic curve correction rate is not obvious. In contrast, compensatory factors such as proximal thoracic cure aggravation, torso tilt, and lumbar curve aggravation mayaffect.
7. Treatment of non-curable severe tuberculous thoracolumbar kyphosis by posterior deformity correction combined with anterior supporting bone graft
Mahmut MARDAN ; Abliz YAKUP ; Tao XU ; Mamat MARDAN ; Jianwei WANG ; Samat XIRALI ; Yang ZHOU ; Weibing SHENG
Chinese Journal of Orthopaedics 2019;39(12):727-736
Objective:
To explore the clinical effect of posterior deformity correction combined with anterior lesion re-moval and bone graft in the treatment of non-curable severe tuberculous thoracolumbar kyphosis.
Methods:
All of 27 patients with non-curable severe tuberculous thoracolumbar kyphosis treated by posterior deformity correction combined with primary or secondary anterior debridement and bone grafting from January 2013 to July 2017 were retrospective analyzed, including 10 males and 17 females. The age ranged from 2 to 38 years with an average of 17.3±9.9 years. Posterior column osteotomy, spinal cord de-compression, cantilever bar pressing technique and intraoperative longitudinal traction were used to correct kyphosis. According to clinical symptoms, Cobb angle correction rate of kyphosis deformity, sagittal SVA of spine, height difference before and after opera-tion, operation time, intraoperative bleeding volume, complications, and the effect of the operation was evaluated. Symptoms and functional evaluation indicators included visual analogue scale (VAS), American Spinal Injury Association (ASIA) spinal cord inju-ry classification, Oswestry dysfunction index (ODI), and Kirkaldy-Willis functional score. Laboratory tests included erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP). Eck fusion grading standard was used to evaluate the degree of bone graft fusion.
Results:
All the 27 patients successfully underwent the operation. The operation time was 210-530 minutes, with an aver-age of 343.0±71.5 minutes, while the bleeding volume was 300-2 600 ml, with an average of 1 168.5±606.7 ml. The preoperative Cobb angle ranged from 81 to 144 degrees, with an average of 105.2±17.7 degrees; the postoperative Cobb angle ranged from 5 to 47 degrees, with an average of 28.2±0.3 degrees, and the average correction rate was 72.9%±9.8%; the preoperative sagittal SVA ranged from 96.66 mm to 78.76 mm, with an average of 40.5±20.4 mm; and the postoperative sagittal SVA ranged from 33.61 mm to 44.96 mm, with an average of 26.6±12.6 mm. The height difference before and after operation was 26.8-172.7 mm, with an aver-age of 67.5±37.8 mm. The follow-up period ranged from 12 to 36 months, with an average of 19.3±6.7 months. At the last follow-up, the loss of Cobb angle ranged from 1 degree to 8 degree, with an average of 4.3°±1.8° degree. The postoperative nutritional sta-tus of all patients was significantly improved. At 3 months after operation, the average VAS score was 1.1±0.6 and the improve-ment rate was 47.5%. The difference was statistically significant (
8.Value of supraclavicular region radiotherapy on patients with pT1-2N1M0 breast cancer after mastectomy.
Rong SHAN ; Ting ZHU ; Min ZHANG ; Juan HUANG ; Weibing ZHOU
Journal of Central South University(Medical Sciences) 2019;44(6):664-671
To evaluate the potential clinical benefit on radiotherapy to supraclavicular region on patients pT1-2N1M0 breast cancer with after mastectomy.
Methods: A total of 923 patients with pT1-2N1M0 treated by radiotherapy (RT) to chest wall plus supraclavicular region (supraclavicular RT group, SCRT) or RT to chest wall only (non-supraclavicular RT, NSCRT) were retrospectively analyzed. Supraclavicular fossae recurrence (SCFR) rate and overall survival (OS) rate were analyzed by Kaplan-Meier method. The risk factors for SCFR were evaluated by univariate and multivariate analysis.
Results: In the following-up period (medium time: 108 months; range from 6 to 179 months), the 5-year and 10-year SCFR in the NSCRT group and the SCRT group were 3.5% and 1.5% (P=0.052), 7% and 2.6% (P=0.001), and the 5-year and 10-year OS were 81.5% and 87.3% (P=0.023), 67.9% and 78.4% (P=0.001), respectively. Univariate analysis showed that risk factors associated with SCFR were age <35 years (P=0.016), T2 stage (P=0.018), 3 axillary lymph nodes (P=0.006), progesterone receptor negative (P=0.038), and human epidermal growth factor receptor-2 positive (P=0.01). Multivariate analysis further demonstrated that T2 stage and age<35, with 3 positive axillary lymph nodes were SCFR-independent prognostic factors. Analysis was conducted by grouping patients with any two of the three items as a high-risk group and patients without or with only one of the three conditions as a low-risk group. RT in the supraclavicular region significantly reduced the 10-year SCFR in the high-risk group (NSCRT, 30.2%; SCRT, 4.5%, P<0.001). However, this benefit was not obvious in the low-risk group (NSCRT, 4%; SCRT, 1.8%, P=0.063).
Conclusion: RT in supraclavicular region should be recommended to pT1-2N1M0 breast cancer patients with two of the three items (<35 years, T2 stage diseases, and 3 axillary lymph node metastasis). High-risk patients need SCRT; whereas the low-risk patients do not need.
Breast Neoplasms
;
surgery
;
Disease-Free Survival
;
Humans
;
Mastectomy
;
Neoplasm Recurrence, Local
;
Retrospective Studies
9.Irreversible electroporation ablation of tumor: an analysis of perioperative complications
Zilin QIN ; Lizhi NIU ; Bing LIANG ; Liang ZHOU ; Gang FANG ; Wei QIAN ; Weibing ZHU ; Jiongyuan XU ; Yong HU ; Jianying ZENG ; Jibing CHEN ; Kecheng XU
Journal of Interventional Radiology 2018;27(3):223-227
Objective To summarize and analyze the perioperative complications of irreversible electroporation (IRE) ablation in treating tumors at different locations and to discuss their managements. Methods A total of 200 patients with tumors, including pancreatic tumor (n=71), liver tumor (n=64) and other tumors (n =65), were enrolled in this study. All patients received IRE ablation treatment. The perioperative complications were recorded and the data were statistically analyzed. The causes of severe complications and the treatment of complications were discussed. Results None of the patients died during the course of IRE ablation procedure. Severe postoperative complications occurred in the patients with pancreatic tumor or liver tumor, including duodenal artery bleeding in 3 patients with pancreatic tumor, which occurred at 10 days, 11 days and 15 days after IRE ablation respectively, and gastrointestinal bleeding (n =1) and biliary septic shock (n=1) in 2 patients with liver tumor, which occurred at 9 days after IRE ablation, the clinical symptoms were controlled after interventional embolization and/or vascular ligation together with anti-infective therapy. All minor complications were relieved after symptomatic treatment within 14 days. Conclusion IRE ablation has less systemic inflammatory response, and both the intraoperative and postoperative adverse reactions can be easily controlled, besides, IRE ablation has higher clinical safety. Although IRE ablation procedure may damage the internal or peripheral vessels of the pancreatic tumor, this severe complications can be effectively avoided if proper measures are adopted based on the causes of complications. (J Intervent Radiol, 2018, 27: 223-227)
10.p53 gene mutations of familial breast cancer and early-onset breast cancer in part population of southern China
Xueli HU ; Huiying OUYANG ; Hao WANG ; Hui LI ; Feiyu CHEN ; Xu DAI ; Weibing ZHOU ; Yuanping HU ; Qian XUE
Journal of Central South University(Medical Sciences) 2017;42(5):493-500
Objective:To investigate the site and characteristic ofp53 gene mutations in familial or early-onset breast cancer patients in part population of southern China.Methods:A total of 150 patients with familial and early-onset breast cancer in parts population of southern China were enrolled.Genomic DNA was isolated from each peripheral blood sample,and the entire coding sequence and exon and intron splicing region of p53 gene were amplificated by PCR in the 150 patients.The mutation analysis were detected by denaturing high performance liquid chromatography (DHPLC) and confirmed by DNA sequence analysis.Results:In the 150 patients with familial and early-onset breast cancer,6 mutations including one novel pathogenic mutation 869_888 ins20 (insert mutation) and 5 previously reported pathogenic mutations (deletion mutation 643_660de118 and 4 missense mutation 91G>A,215C>G,537T>G,743G>A) were identified in p53 gene encoding region in 9 patients of breast cancer.Moreover,one same sense mutation 141G>A in exon 4,one 16 bases deletion in intron 3,and 9 single nucleotide polymorphisms in p53 gene introns were also identified.The total mutation frequency ofp53 gene in 150 patients with familial breast cancer and early-onset breast cancer from part population of southern China was 6.00%,and the mutation frequency of familial breast cancer and early-onset breast cancer was 6.81% and 6.25%,respectively.Conclusion:The total mutation frequency ofp53 gene in 150 patients with familial breast cancer and early-onset breast cancer from partpopulation of southern China is higher than the frequency previously reported.The pathogenicity of the novel mutations (insert mutation) 869_888ins20 will be confirmed by function analysis in the future study.The deletion mutation 643_660de118 enriches the p53 gene mutation database among Chinese population,which is probably the specific mutation of breast cancer in Chinese population.

Result Analysis
Print
Save
E-mail