Application and effect of microlecture in the clinical teaching of thoracic surgery / 中华医学教育探索杂志

Traditional thoracic surgery teaching has many problems, such as limited classroom teaching time allocation, many diseases and difficult to fully cover classroom teaching, uneven practical teaching level, and difficulty in updating "big textbooks". The Department of Thoracic Surgery of The Second Affiliated Hospital of Air Force Medical University has gradually applied microlecture to all levels of thoracic surgery teaching, such as undergraduate auxiliary classroom teaching and clinical skills training, grassroots and refresher doctor training, postgraduate education, etc., and has achieved good results of teaching effect.

Variant analysis of SOX5 gene in a Lamb-Shaffer syndrome family / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a case of Lamb-Shaffer syndrome.@*METHODS@#Genomic DNA was extracted from peripheral blood samples and subjected to whole exome sequencing(WES). Suspected variant was verified by Sanger sequencing.@*RESULTS@#The patients was found to harbor a heterozygous c.1495delA(p.Thr499Glnfs*5) frameshift variant of the SOX5 gene by WES. Sanger sequencing confirmed that the same variant was a de novo variant. Based on the American College of Medical Genetics and Genomics guidelines, c.1495delA(p.Thr499Glnfs*5) variant of the SOX5 gene was predicted to be pathogenic (PVS1+PS2+PM2).@*CONCLUSION@#The c.1495delA(p.Thr499Glnfs*5) variant of the SOX5 gene probably underlies the Lamb-Shaffer syndrome in this patient.

Subxiphoid and subcostal arch thoracoscopic versus unilateral thoracoscopic thymectomy for the treatment of thymic abnormalities with myasthenia gravis: A propensity-score matching study / 中国胸心血管外科临床杂志

@#Objective    To compare clinical effects of extended thymectomy for the treatment of thymic abnormalities with myasthenia gravis (MG) between subxiphoid and subcostal arch thoracoscopic resection (SR) and the unilateral thoracoscopic resection (UR) by a propensity-score matching analysis. Methods    We retrospectively analyzed the clinical data of 612 patients who presented with MG and were admitted to Tangdu Hospital of Air Force Military Medical University between December 2011 and December 2018. Of these patients, 520 patients underwent subxiphoid and subcostal arch thoracoscopic extended thymectomy (a SR group) and 92 unilateral thoracoscopic extended thymectomy (a UR group). Ninety-two patients in the SR group were matched with the UR group by propensity-score matching analysis. There were 52 males and 40 females with an average age of 26-70 (50.2±10.3) years in the SR group, and 47 males and 45 females with an average age of 20-73 (51.5±12.1) years in the UR group. The operation time, intraoperative blood loss, thoracic drainage time, postoperative hospital stay, thorough adipose tissue removal, postoperative remission of MG, patients’ satisfaction score, pain and complications were compared and analyzed between the two groups. Results    All operations were accomplished successfully, without conversion to thoracotomy of the two groups. There were statistical differences between the two groups in operation time (46.2±19.5 min vs. 53.4±23.5 min), chest drainage duration (0 d vs. 3.4±1.2 d), hospital stay (2.9±1.9 d vs. 3.6±1.7 d), patients’ satisfaction score (7.9±2.1 points vs. 6.7±1.2 points) and pain scores (all P<0.05). There were no statistical differences between the two groups in intraoperative blood loss (52.2±12.7 mL vs. 51.2±10.3 mL), peripheral adipose tissue removal (8.1±0.6 vs. 7.9±0.9), remission rate of MG (89.1% vs. 85.9%) and rate of postoperative complications (10.9% vs. 6.5%) (all P>0.05). Conclusion    Subxiphoid and subcostal arch thoracoscopic extended thymectomy is a safe and feasible minimally invasive procedure for the management of MG with thymic abnormalities.

Analysis of gene variant in a Chinese pedigree with preaxial polydactyly / 中华医学遗传学杂志

OBJECTIVE@#To analyze the pathogenic variant of preaxial polydactyly in a Chinese Han pedigree and identify the cause of polydactyly.@*METHODS@#The peripheral blood DNA of the proband and her parents was extracted. The polydactyly-related genes were detected by trio whole exome sequencing, and the suspected pathogenic gene was screened out. Sanger sequencing was applied to other members of the pedigree.@*RESULTS@#The results of gene sequencing showed that the LMBR1 gene had a heterozygous variant of c.423+4909(IVS5)C>T in 6 patients of the pedigree. The same variant was not detected in family members with normal phenotype. Based on the ACMG guidelines, c.423+4909(IVS5)C>T of the LMBR1 gene was predicted to be pathogenic (PM1+PM2+PP1-S(PS)+PP4+PP5).@*CONCLUSION@#The heterozygous C>T variant at position 4909 of intron 5 of the LMBR1 gene probably underlies the disease in this pedigree.

Clinical comparative analysis of thymectomy between subxiphoid and subcostal arch thoracoscopic resection and open resection for the treatment of thymoma with myasthenia gravis / 中华胸心血管外科杂志

Objective To compare and analyze clinical effects of extended thymectomy for the treatment of thymoma with myasthenia gravis(MG) between subxiphoid and subcostal arch thoracoscopic resection(SR) and the median sternotomy(MS) with a propensity-matched analysis.Methods We retrospectively analyzed 528 patients presented with MG and admitted in Tangdu Hospital of Air Force Military Medical University from December 2011 to December 2016,among whom 402 underwent subxiphoid and subcostal arch thoracoscopic extended thymectomy(SR group) and 126 median sternotomy(MS group).Another 126 patients were produced by a propensity-matched analysis in these 402 patients,to match with MS group.Perioperative outcomes were compared between SR group and MS group.Results All operations were accomplished successfully,without conversion to thoracotomy in SR group.Most postoperative outcomes were equal in remission of MG and postoperative complication between the two groups(P ＞ 0.05).There were statistical differences between MS group and SR group in operation time [(106.3 ±32.7)min vs.(533.2 ±37.3) min],intraoperative blood loss[(138.2 ±26.7)ml vs.(38.2 ± 10.3) ml],chest drainage duration[(3.3 ± 1.6) days vs.0 day],hospital length of stay [(5.0 ± 2.5) days vs.(2.5 ± 1.8) days],patients'satisfaction level(6.1 ±2.3 vs.8.9 ± 1.2),the incidence of postoperative wound infections(4.8％ vs.0.8％),the incidence of myasthenic crisis(7.1％ vs.1.6％)and pain scores,all P ＜0.05.Conclusion Subxiphoid and subcostal arch thoracoscopic extended thymectomy is a safe and feasible minimally invasive procedure for tmanagement of MG with thymoma.

The mutation of mitochondrial genome in lymphoma / 肿瘤研究与临床

Objective To investigate the mutation of mitochondrial genome in lymphoma. Methods The peripheral blood or borrow fluid 2 ml from 14 lymphoma patients in the First Hospital of Qinhuangdao between May 2016 and July 2017 were collected. Polymerase chain reaction (PCR) was used to amplify and sequence mitochondrial DNA, and the results were compared with the revised Cambridge reference sequence (rCRS) and human mitochondrial genome database (mtDB), and then the mutation was also analyzed. Results There were 118 mutation genes, including 57.63％ (68/118) in D-loop region, 18.64％ (22/118) in NADH dehydrogenase 5 (ND5) region, 13.56％(16/118) in cytochrome b oxidase (CbO) region, 5.08％(6/118) in ND1 region, 3.39％ (4/118) in cytochrome oxidase (COⅡ) region, 1.69％ (2/118) in ND4 region. Conclusion Mitochondrial DNA mutation in lymphoma has a high mutation rate.

Study on mitochondrial DNA mutation in patients with primary multiple myeloma / 白血病·淋巴瘤

Objective To study the mitochondrial DNA mutation in patients with primary multiple myeloma. Methods The mitochondrial DNA of 5 patients with primary multiple myeloma in the First Hospital of Qinhuangdao from February to June 2017 were amplified by polymerase chain reaction (PCR) and sequenced directly, and the results were compared with revised Cambridge Reference Sequence (rCRS) and Human Mitochondrial Gene Database (mtDB) database. Results There were 42 mutation genes, with 52.38％(22/42) mutation genes in D-loop region, 9.52％(4/42) mutation genes in ND4L region, 2.38％(1/42) mutation genes in ND5 region, 26.19％ (11/42) mutation genes in Cytb region, 7.14％ (3/42) mutation genes in ND1 region, and 4.76％ (2/42) mutation genes in COⅡ region. Conclusion There is a high mitochondrial DNA mutation rate in patients with primary multiple myeloma.

Analysis of mitochondrial DNA mutation in leukemia / 肿瘤研究与临床

Objective To study the mitochondrial DNA mutation in leukemia.Methods Mitochondrial DNA of 16 leukemia patients in First Hospital of Qinhuangdao from February to June 2017 were amplified and sequenced by using polymerase chain reaction (PCR).The result was compared with revised Cambridge reference sequence (rCRS) and human mitochondrial genome database (mtDB),and the mutation was also analyzed.Results There were 106 mutation genes in total,including 47.17 ％ (50/106) in D-loop region,2.83 ％ (3/106) in ND4 region,17.92 ％ (19/106) in ND5 region,22.64 ％ (24/106) in Cytb region,7.55 ％ (8/106) in ND1 region,1.89 ％ (2/106) in Co Ⅱ region.Conclusion There is a high mitochondrial DNA mutation rate in leukemia patients.

Predictive values of clinicopathological features and expression of thyroid transcription factor 1 for epidermal growth factor receptor mutations in non-small cell lung cancer / 肿瘤研究与临床

Objective To study the values of clinicopathological features and expression of thyroid transcription factor 1 (TTF-1) in predicting the mutation status of epidermal growth factor receptor (EGFR) gene in patients with non-small cell lung cancer (NSCLC). Methods Mutation status of exons 18, 19, 20 and 21 in EGFR, and expression of TTF-1 protein in 283 cases of NSCLC diagnosed in Shanxi Provincial Cancer Hospital from January 2013 to December 2014 were analyzed by using amplification refractory mutation system (ARMS) and immunohistochemical method. The correlation of EGFR mutations with the clinicopathological features and TTF-1 expression were studied to explore the values of them in the prediction of EGFR mutations. Results Among 283 cases of NSCLC, the rate of EGFR gene mutation was 30.0 ％(85/283), including 3 cases with double mutations(exon 18 and exon 20 double mutations in one case, exon 19 and exon 21 double mutations in one case, exon 20 and exon 21 double mutations in one case). The EGFR gene mutations were associated with gender, histological type, history of smoking, and expression of TTF-1 (all P<0.001), but not related to age and tumor location (P= 0.785, P= 0.138). The combination of factors with high mutation rates (women, adenocarcinoma, no smoking, and TTF-1 positive) made the positive predictive value of EGFR mutations up to 57.6 ％. And the combination of factors with low mutation rates (male, nonadenocarcinoma, smoking history, TTF-1 negative) made the EGFR negative predictive value up to 90.3％. Conclusion The combination of clinicopathological features and TTF-1 expression status in patients with NSCLC has a great predictive value for EGFR mutations, which can provide a useful reference for clinical treatment decision-making.

Study of DNA demethylation acting on DNA methyltransferase gene and microRNA in B-cell acute lymphocytic leukemia cell line / 白血病·淋巴瘤

Objective To explore the function of 5-Aza-CdR in B-cell acute lymphocytic leukemia cell line NALM-6 and its influence on the expression of microRNA (miRNA) in the cells. Methods NALM-6 was treated with different concentrations of 5-Aza-CdR. Cell proliferation was detected by methyl thiazolyl tetrazolium (MTT) test, and DNA methyltransferase (DNMT) mRNA expression level was detected by reverse transcription PCR (RT-PCR). The expression changes of miRNA were detected by miScript miRNA PCR Array chip in cells after methylation. Results NALM-6 cell growth was inhibited by different concentrations of 5-Aza-CdR processing time, reaching to the maximum inhibitory rate was (74.163 ±0.381) %. 5-Aza-CdR affected concentrations was inversely proportional with expression level of DNMT mRNA. After 1 000 μmol/L of 5-Aza-CdR was dealed with cell 72 h, the relative expression of DNMT-1 was reduced to 0.453 ±0.021, DNMT-3L was 0.003±0.001, DNMT-3B was 0.395±0.019. MiScript miRNA PCR array sieved out 3 miRNA (miR-184, miR-23a-3p, miR-34a-5p) associated with DNA methylation. Conclusions 5-Aza-CdR down regulates the expression of DNMT gene in NALM-6 cells, and inhibits the proliferation of cells. MiR-184, miR-23a-3p and miR-34a-5p are related to DNA methylation in the occurrence and development of B-cell acute lymphocytic leukemia.

Identification of novel common mutations among patients with non-syndromic hearing loss with high-throughput gene capture technology / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify novel common mutations among patients with non-syndromic hearing loss (NSHL).</p><p><b>METHODS</b>High-throughput gene capture technology was used to analyze 18 patients with NSHL in whom common mutations of deafness genes including GJB2, SLC26A4, GJB3, and mtDNA were excluded. Suspected mutation was verified with Sanger sequencing.</p><p><b>RESULTS</b>Next generation sequencing has identified 62 mutations in 29 genes associated with hearing loss, which included 54 missense mutations, 4 splicing mutations, 3 deletional mutations, and 1 nonsense mutation. Mutations occurring more than twice in the 18 patients were verified by Sanger sequencing. This has confirmed 15 mutations in 8 genes, including 3 missense mutations (p.C2184G, p.L2825P, p.H1888Y) which have not been reported previously. Meanwhile, p.L445W, p.D866N, and IVS919-2A>G were common causative mutations.</p><p><b>CONCLUSION</b>A number of common causative mutations, e.g., p.L445W, p.D866N, IVS919-2A>G, have been identified by high-throughput capture technology, which may facilitate the research and genetic diagnosis for hearing loss.</p>

Study of polymorphisms of genes related to folic acid metabolism among women of child-bearing age from Shanxi / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze polymorphisms of genes related to folic acid metabolism among women of child-bearing age from Shanxi.</p><p><b>METHODS</b>Buccal smears were collected from 1070 women of child bearing age with cotton swabs. Sequences of MTHFR C667T and A1298C, MTRR A66G, and SLC19A1 A80G were determined by DNA sequencing. The results were compared with data from other regions of China.</p><p><b>RESULTS</b>For MTHFR C667T, the wild type homozygote, heterozygous mutants, and homozygous mutants have respectively accounted for 20.5%, 50.3%, and 29.2% of the study group, with the frequency of the mutant T allele being 54.4%. For MTHFR A1298C, these were 68.7%, 29.3%, and 2.0%, with the frequency of mutant C allele being 16.6%. For MTRR A66G, the above frequencies were 51.5%, 41.8%, and 6.7%, with the frequency of the mutant G allele being 27.6%. For SLC19A1 A80G, these were 29.2%, 48.0%, 22.8%, with the frequency of mutation G allele being 46.8%. Compared with other regions of China, women of child-bearing age from Shanxi has shown a significant difference in allelic distribution of MTRR A66G and SLC19A1 A80G (P<0.05).</p><p><b>CONCLUSION</b>The polymorphisms of genes related to folic acid metabolism showed significant regional difference. Over half of women from Shanxi have carried high-risk alleles for folic acid insufficiency and should have individualized folic acid supplement.</p>

Mutation analysis of seven patients with Waardenburg syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To perform genetic analysis for 7 patients with Waardenburg syndrome.</p><p><b>METHODS</b>Potential mutation of MITF, PAX3, SOX10 and SNAI2 genes was screened by polymerase chain reaction and direct sequencing. Functions of non-synonymous polymorphisms were predicted with PolyPhen2 software.</p><p><b>RESULTS</b>Seven mutations, including c.649-651delAGA (p.R217del), c.72delG (p.G24fs), c.185T>C (p.M62T), c.118C>T (p.Q40X), c.422T>C (p.L141P), c.640C>T (p.R214X) and c.28G>T(p.G43V), were detected in the patients. Among these, four mutations of the PAX3 gene (c.72delG, c.185T>C, c.118C>T and c.128G>T) and one SOX10 gene mutation (c.422T>C) were not reported previously. Three non-synonymous SNPs (c.185T>C, c.128G>T and c.422T>C) were predicted as harmful.</p><p><b>CONCLUSION</b>Genetic mutations have been detected in all patients with Waardenburg syndrome.</p>

Identification and differentiation of breast cancer stem cells under tumor microenvironment / 中国组织工程研究

BACKGROUND:Breast cancer stem cel s have a greater impact on the occurrence and metastasis of breast cancer. Under simulated tumor microenvironment, we can better analyze the proliferation and differentiation of breast cancer stem cel s. OBJECTIVE:To explore the tumor microenvironment effect on the differentiation of breast cancer stem cel s. METHODS:Breast cancer cel s and MCF-7 cel s were primarily cultured in fibroblast supernatant and serum-free PCM-2 medium, and formation of breast cancer cel s microspheres was observed. Proliferative ability of breast cancer cel s was detected using MTT colorimetry, and the surface markers of breast cancer stem cel s and epithelial-mesenchymal transition markers were measured using immunocytochemistry and RT-PCR methods. RESULTS AND CONCLUSION:The diameter of primary cel microspheres was larger in the serum-free PCM-2 medium than in the fibroblast supernatant, but the culture speed was faster in the fibroblast supernatant than the serum-free PCM-2 medium. At 3 days of primary culture, the expression of ALDH1 in primary cel s was greatly higher in the serum-free PCM-2 medium than in the fibroblast supernatant. However, the expressions of E-cadherin and vimentin were up-regulated in the fibroblast supernatant than in the serum-free PCM-2 medium. In addition, the expressions of E-cadherin and vimentin in MCF-7 cel s cultured in the fibroblast supernatant were up-regulated, while the expressions of ALDH1 and Oct-4 were downregulated. These findings indicate that the tumor environment has some certain effects on the growth and differentiation of breast cancer stem cel s, and some cytokines secreted from fibroblast supernatant can promote the proliferation and differentiation of breast cancer stem cel microspheres to some extent.

Detection of common deafness-related genes among non-syndromic deafness patients from Shanxi province / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the common causative genes and mutation sites for hereditary non-syndromic deafness in Shanxi.</p><p><b>METHODS</b>Peripheral blood samples were collected from regional schools for children with deafness. The samples were analyzed by matrix-assisted laser desorption ionization of flight mass spectrometry, and the results were verified by DNA sequencing.</p><p><b>RESULTS</b>For all samples, the 20 mutational sites of the 4 common causative genes were tested. As revealed, c.235delC of GJB2 gene has the highest mutational rate (13.67%). c.IVS7-2A>G of SLC26A (PDS) gene has a mutation rate of 17.67%, and c.1555A>G of mitochondrial 12S rRNA has a mutation rate of 2.00%. No mutations have been found with GJB3 gene. Sequencing analysis has suggested that the above results have a consistency rate of 99%.</p><p><b>CONCLUSION</b>Analysis of mutations of the 4 common deafness-related genes can facilitate early diagnosis and treatment for the disease. Matrix-assisted laser desorption ionization time of flight mass spectrometry is a reliable method for such a task.</p>

Distribution of interleukin-6-634C/G promotor gene polymorphism in 8-12-year-old children and its correlation with nutrition / 中华临床营养杂志

ObjectiveTo explore the correlation between IL-6-634C/G gene promoter polymorphism and body mass index (BMI),blood sugar (BS),25-hydroxy vitamin D (25-OH-D),and serum lipid levels by investigating in 8-12-year-old Han children in Shanxi province,China.MethodsIn Datong city of Shanxi province,214 8-12-year-old children were enrolled after obtaining informed consent from their parents.The weight and height were measured and the BMI was calculated.BS,serum lipids,and 25-OH-D were determined.IL-6-634C/G polymorphism were detected by polymerase chain reaction restricted fragment length polymorphism.The effects of genotype on BMI,BS,serum lipids,and 25-OH-D were also studied.ResultsThe genotypes of IL-6-634C/G polymorphism in 214 cases were GG ( 15％ ),GC (40％),and CC (45％).The percentages of C and G allele frequencies were 65％ and35％.The genotypes and allele frequencies showed no gender differences ( P ＞ 0.05 ).However,significantly different GG genotypes frequencies were found between overweight and obese children (38.3％) and other children ( normal weight children: 7.3％ ; thin children: 10.9％ ) (x2 =14.715,P =0.006).Multivariate logistic regression analysis showed that IL-6-634C/G polymorphisms and triglyceride were correlated with overweight and obesity (P ＜ 0.05 ).25-OH-D was not correlated with BMI (r =0.075,P =0.528),BS ( r =0.018,P =0.880 ),triglyceride ( r =- 0.097,P =0.417 ),high density lipoprotein cholesterin ( r =0.038,P =0.751 ),and low density lipoprotein cholesterin ( r =- 0.028,P =0.817 ).25-OH-D was not significantly different between overweight and obesity children.The distribution of three genotypes showed no correlation with 25-OH-D deficiency (x2 =0.622,P =0.733 ).ConclusionsIL-6-634C/G polymorphism exists in Han children in Shanxi province.IL-6 gene 634 GG genetype is a risk factor of childhood overweight and obesity,and may affect lipid metabolism.However,it has no direct impact on glucose metabolism.IL-6 gene 634C/G polymorphism and serum 25-OH-D are not relevant.IL-6 gene 634C/G polymorphism is not related to vitamin D deficiency diseases,and may be not related to bone calcium metabolism.25-OH-D is not relevant with BS and blood lipids level,and also is not associated with childhood overweight and obesity.

Microsatellite instability of D310 and D16184 located in mitochondrial D-loop region in acute leukemia / 白血病·淋巴瘤

Objective To study the microsatellite instability (MSD) of D310 and D16184 located in mitochondrial D-loop region in acute leukemia (AL). Methods The HV-1 and HV-2 regions in D-loop region of 100 persons with the untreated and treated acute leukemia was amplificated and screened by PCR-SSCP,then the abnormal samples was amplificated and sequenced directly and compared with revised Cambridge reference sequence (rCRS) and mtDB. The mutation rates of D310 and D16184 was measured by SPSS11.5 statistics software, x2-test. Results The total mutation rate of D310 was found in 49.0 % (49/100) of our patients. Its mutation rates in untreated group and treated group were 32.5 % (13/40) and 60.0 % (36/60)respectively. The mutation rate of treated group is higher than that in untreated group (P ＜ 0.05). The total mutation rate of D16184 was found in 32.0 % (32/100) of our patients. Its mutation rates in untreated group and treated group were 20.0 % (8/40) and 40.0 % (24/60) respectively. The mutation rate of treated group is higher than that in untreated group (P ＜ 0.05). Conclusion There was a high mutation rate with various types of mutations of microsatellite D310 and D16184 located in mitochondrial D-loop region in AL, which led to a doughty MSI. Chemotherapy could cause a more doughty MSI.

Overexpression and clinical implication of MDM2 oncogene in acute leukemia / 白血病·淋巴瘤

Objective To study the over-expression and clinical implications of the oncogene MDM2 in acute leukemia (AL). Methods The expression of MDM2 gene in 100 patients with newly diagnosed and relapse or refractory AL and 20 healthy as control was measured by relative quantitative reverse transcriptase polymerase chain reaction (RT-PCR),then the results was measured by χ2-test,t-test and one-way ANOVA to compare expession positive rate and intensity of MDM2. Results Among 100 patients,fifty-eight had the high expression of MDM2 gene (58 %). The expression level of MDM2 gene in patients was higher than that of health controls(P ＜0.05). The expression positive rate of MDM2 is higher in poor outcome group (67.9 %,19/28)than that in general outcome group (33.9%,19/56) (P＜0.05). Conclusion Our results suggest that the expression of MDM2 gene plays an important role in the pathogenesis and poor outcome of AL.

Construction of bcr-abl gene eukaryotic expressing vector and its expression in COS-7 cells / 白血病·淋巴瘤

Objective To clone and construct eukaryotic expressing vector of bcr-abl fusion gene and to express the gene in the mammal COS-7 cell lines. Methods bcr-abl fusion gene was amplified from human chronic myeloid leukemia (CML) K562 cell lines by RT-PCR and the fragment of cDNA was retrieved,purified and cloned into the pEGFP-N3 eukaryotic expressing vector. After the selection of the positive clone and by restriction enzyme analysis and DNA sequencing, the correct plasmid was transfected into COS-7 cell lines and observed the transient expression. Results A 874 bp DNA fragment was amplified by RT-PCR. The sequence analysis showed it was consistent with bcr-abl gene of GeneBank. RT-PCR, Western blotting analysis provided strong evidences that bcr-abl gene was expressed successfully in transfected COS-7 cells.Conclusion The eukaryotic expressing vector of bcr-abl fusion gene was constructed, it will lay the foundation for further study of bcr-abl gene in the diagnosis and treatment of CML.

Detection of ATM deletion in chronic lymphocytic leukemia by fluorescence in situ hybridization / 白血病·淋巴瘤

Objective To investigate ATM deletion [del (ATM)] in chronic lymphocytic leukemia (CLL) and study its correlation with the clinical stage. Methods Spectrum Orange~(TM) labeled sequence specific DNA probe for ATM locus on 11q22.3 and fluorescence in Situ hybridization (FISH) was used to examine del (ATM) in 28 newly diagnose patients with CLL. FISH analysis were performed on bone marrow smears. Clinical staging was done according to Binet Method.Fisher exact propability was used to study the relations between del (ATM) and clinical feature. Results 4 out of the 28 cases were found with deletion of ATM. The incidence of del (ATM) in BinetA, BinetB and BinetC was 1/9 (11.1 %), 1/8 (12.5 %), 2/11 (18.2 %), respectively. Fisher exact propability showed that deletion of ATM was not associated with its clinical feature. Conclusion Application of FISH on archival bone marrow smears is a simple, liable method, and can be readly used to retrospective study of clonal blood system diseases. Deletion of ATM was common cytogenetic changes in CLL patients.And the significance of del (ATM) in the prognosis of CLL in China needs to be further investigated.