Objective To study the basic and clinical achievements in diagnosis and therapy of hereditary pancreatitis. Methods Related literatures of recent years were reviewed. Results Hereditary pancreatitis was a rare type of pancreatitis, with an estimated penetrance of 80%, and was believed to be caused by a mutation in the cationic trypsinogen gene. Patients with hereditary pancreatitis had a high frequency of pancreatic cancer.Conclusion The progress has been made on hereditary pancreatitis and has given us many useful suggestions for a better understanding about this difficult medical problem.
The loss of heterozygosity and mutation for nm23-H1 gene in colorectal carcinomas were studied by Southern blot and RT-PCR-SSCP/silver staining sequencing. The rate of loss of heterozygosity for nm23-H1 was 29.63%. The cases of Duke’s stage D and distant metastatsis had higher frequency of the loss of heterozygosity. No mutation for nm23-H1 was found in colorectal carcinomas. These reaults indicate that the loss of heterozygosity for nm23-H1 may play a significant role in the malignant progression and distant metastasis in colorectal carcinomas.
Objective To investigate the mutations of quinolone resistance determinational region ( QRDR) in fluoroquinolon-resistant Pseudomonas aeruginosa strains isolated from patients with nosocomial pneumonia. Methods Eight-four Pseudomonas aeruginosa strains isolated from patients with nosocomial pneumonia in Xinhua Hospital during January 2006 to December 2007, from whom fluoroquinolon-resistant resisitant ( case) and fluoroquinolon-susceptible ( control ) Pseudomona aeruginosa were identified. The mutation of QRDR was tested by restriction fragment length polymorphism ( RFLP) and gene sequencing.The relationship between QRDR mutations and clinical prescription was analyzed. Results Mutation in QRDR was found in 42 isolates among the 50 fluoroquinlon-resisitant isolates( 84. 0% ) , while no mutation was found in fluoroquinlon-susceptible isolates. The mutation in GyrB Ser464 was found in 34 isolates ( 68. 0% ) . There was statistical difference in the usage of β-lactams between the GyrB-Ser464-mutated group and the non-GyrB-Ser464-mutated group( OR = 11. 3, P = 0. 003 and OR = 3. 5, P = 0. 023) , also in the time of fluoroquinolon usage before isolated ( P = 0. 038) . Conclusions The mutation of QRDR is contributing to fluoroquindor-resisitance of Pseudomona aeruginosa, most of which lies in GyrB Ser464.Abuse of β-lactams and fluoroquinolon may be the risk factors of mutation in GyrB Ser464.
Objective To study the mutations at 1 573 fragment of TNF receptor II (TNFR-II) gene in patients with keloid. Methods The tissue DNA was extracted from 22 samples of keloids donated by 22 patients (6 males and 16 females, aged 18-53 years), and all keloids were examined and classified by pathologist. The peri pheral blood DNA was extracted from the same patients as the control. PCR was used to ampl ify the 1 573 fragment of TNFR-II gene from the keloid tissue DNA and peripheral blood DNA. The PCR products were sequenced directly and then compared with the GeneBankdata. Results All the concentration of the extracted DNA in trial were higher than 0.50 μg/μL and the purity (A260/A280) ofthe extracted DNA were higher than 1.5. It closed to the magnitude of the design DNA fragment by agarose gel electrophoresis examining, and corresponded with the test requirement. Mutations at 1 573 fragment of TNFR-II gene were detected in 13 out of 22 keloids. The mutation incidence was 59.1%. Among them, 9 had point mutation at codon 1 663, accounting 40.9%. No TNFR-II gene mutation was detected in all peripheral blood samples. There were significant difference between keloids DNA and peripheral blood DNA (P lt;0.01). The mutations involved point mutation, deletion and insertion as well as multisite and multitype. Conclusion There is a correlation between the mutation at 1 573 fragment of TNFR-II gene and keloid.
Objective To detect gene mutations of Fas gene death domain （exons 7-9） in 2 Chinese keloid pedigrees and to investigatethe significance of Fas gene mutations in the keloid formation.Methods The samples were selected from keloid pedigrees A and B in 2005. The polymerase chainreaction and DNA sequencing analysis technique were used to detect the sequenceof exons 7-9 of Fas gene from keloid tissues of 2 male patients in pedigree A,their peripheral vein blood and their surrounding normal skin served as their own contrast, their spouses’ peripheral vein blood served as normal contrast, the peripheral vein blood of 2 patients in pedigree B served as a contrast between different keloid pedigrees.Results No gene mutations and single nucleotidepolymorphism in Fas gene exons 7, 8 were found in all samples from pedigrees A and B. But point mutations and single nucleotide polymorphism in Fas gene exon 9were identified in 11 bp and 53 bpin 2 keloid tissue samples from Chinese keloid pedigree A.Conclusion Fas gene point mutations maybe indicate some relations in Fas protein function and keloid formation.
Objective To investigate K-ras gene exon 2 codon 12 and 13 mutations， and analyze the clinical significance in the Uyghur and Han patients with rectal cancer. Methods A total of 144 surgical specimens taken from patients with rectal cancer who were treated in this hospital from January 2010 to December 2011 were used in this study. DNA was picked up from the tumor tissues and amplificated by PCR then direct sequencing.Results The K-ras gene muta-tion rate was 22.22% （32/144）， which was 26.09% （12/46） and 20.41% （20/98） in the Uyghur and Han patients， respec-tively， the difference was not statically significant （P＞0.05）. The K-ras gene mutation was related to the depth of invasion（T1＋T2：25.0%， T3＋T4：75.0%， P=0.01）， which was not related to the nation， gender， location of tumor， differen-tiation degree， or lymph node metastasis （P＞0.05）. Conclusions K-ras gene mutation is a common event in the Uyghur and Han patients with rectal cancer， but the K-ras gene mutation rate is not significant difference between the Uyghur nationality and Han nationality， which is only related to depth of invasion.
Objective To investigate the feature of c-kit gene mutation in gastrointestinal stromal tumor （GIST） and its correlation with clinicolpathology， molecular targeted therapy，and prognosis. Methods The related literatures about the molecular genetic mechanism of GIST were reviewed. Results The c-kit gene mutation， which is prevalent in GIST， may be the early genomic events， and they are not the independent prognostic factor. However， different molecular subtype as a new indicator to regulate biological behaviors and assess prognosis of GIST is still controversial. Conclusions The study of genotype in GIST has advanced our understanding of pathogenesis， evaluating the prognosis and conducting treatment optimization. However， subsequent work remains to be done.
Objective To research the clinical characteristics and the arysulfatase A(ARSA) gene screening inafamily withametachromatic leukodystrophy and epilepsy child. Methods Clinical data were collected and ARSA gene were tested by PCR and Sanger sequencing in the pedigree． Results Two mutations in exon 2 of ARSA gene was identified in the proband includingaknown heterozygous missense mutation c.293C>T which was also found in his mother andanovel frameshift mutation c.302de1G. None of them was found in the proband’s brother. Conclusion The intractable epilepsy of the proband was related to his metachromatic leukodystrophy. Andanew frameshift mutation c.302delG was found in his ARSA gene, which haven’t reported around the world yet. Combined with the patient’s typical late infantile presentation, we speculated that the frameshift mutation c.302delG may be the cause of MLD.
ObjectiveTo investigate the relationship of concomitant BRAFV600E gene mutation with the predictive factors of papillay thyroid microcarcinoma(PTMC). MethodsBy fluorescence quantitative PCR method to detect BRAFV600E gene mutation of PTMC of 86 cases, and to detect the relationship with clinical pathological features of PTMC by single factor and multi-factor logistic regression analysis. ResultsThe morbidity of BRAFV600E gene mutation was 65.1%(56/86). By univariate analysis, BRAFV600E gene mutation status showed a related trend with lymph node metastasis(P=0.057). The multivariate analysis showwd that lymph node metastasis was correlated with BRAF V600E gene mutation(P < 0.05). When the diameter of tumor > 5 mm and≤10mm, BRAFV600E gene mutation was no statistically significantly related to central lymph node metastasis(P > 0.05). When BRAFV600E gene mutations was negative in patients with tumor diameter≤5 mm, no lymph node metastasis sample appeared. ConclusionsThe presence of BRAFV600E gene mutation is an independent predictive factor for central lymph node metastasis. When PTC with preoperative BRAFV600E gene mutation positive, the central neck dissection should be routine performed. There should be re-examined the necessity of preventative central lymph node disection when the tumor diameter is 5 mm or less with the patients which mutation negative.
ObjectiveTo explore the correlation between expression of thyroid transcription factor-1 (TTF-1) and gene mutation of epidermal growth factor receptor (EGFR) in patients with resectable lung adenocarcinoma (LAC). Method Sixty-seven LAC patients who underwent surgical resection in the Department of Cardiothoracic Surgery of Shanghai No.6 Hospital and Department of Thoracic Surgery, Renji Hospital, School of Medicine of Shanghai Jiaotong University from June 2009 to December 2012 were enrolled in this study. There were 40 male and 27 female patients with their age of 37-79 (56.7±1.8) years. TTF-1 expression was detected by immunohistochemistry. EGFR gene mutation was examined with mutant-enriched polymerase chain reaction. The correlation between TTF-1 expression and EGFR gene mutation was analyzed with corrected chi-square test. ResultsAmong the 67 LAC samples, 57 samples were TTF-1 positive and 10 samples were TTF-1 negative. There was EGFR gene mutation in 44 samples. EGFR gene mutation rate was 73.7% (42/57) in TTF-1 positive patients and 20.0% (2/10) in TTF-1 negative patients. The sensitivity of TTF-1 expression to predict EGFR mutation was 95.5%, and the specificity was 34.8%. ConclusionEGFR gene mutation rate is higher in LAC patients with positive TTF-1 expression. Positive TTF-1 expression can be used to predict EGFR gene mutation in LAC patients.