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Cytogenetic and molecular genetic alterations in hepatocellular carcinoma

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Acta Pharmacologica Sinica 2005年第6期26卷 659-665页

作者： Sze-hang LAU, Xin-yuan GUAN~1 Department of Clinical Oncology, Faculty of Medicine, The University of Hong Kong, Hong Kong, China Department of Clinical Oncology Faculty of Medicine The University of Hong Kong Hong Kong China

Specific chromosome aberrations are frequently detected during the development of hepatocellular carcinoma. Molecular cytogenetic approaches such as comparative genomic hybridization and loss of heterozygosity analyses have provided fruitful information on changes in HCC cases at the genomic level. Mapping of chromosome gains and losses have frequently resulted in the identification of oncogenes and tumor suppressors, respectively. In this review, we summarize some frequently detected chromosomal aberrations reported for hepatocellular carcinoma cases using comparative genomic hybridization and loss of heterozygosity studies. Focus will be on gains of lq, 8q, and 20q, and losses of 4q, 8p, 13q, 16q, and 17p. We then examine the candidate oncogenes and tumor suppressors located within these regions, and explore their possible functions in hepatocarcinogenesis. Finally, the impact of microarray-based screening platforms will be discussed.

关键词： hepatocellular carcinoma chromosome aberrations oncogenes tumor suppressor genes

Cytogenetic and andrological status and ICSI-results in couples with severe male factor infertility

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Asian Journal of Andrology 2000年第4期2卷 293-296页

作者： G.Haidl B.Peschka G.Schwanitz M.Montag K.vander Ven H.vander Ven Dept.of Dermatology and Andrology Inst.of Human GeneticsInst.of Human GeneticsDept.of Gynecological Endocrinology and Reproductive Medicine University of Bonn 53105 Bonn GermanyDept.of Gynecological Endocrinology and Reproductive Medicine University of Bonn 53105 Bonn GermanyDept.of Gynecological Endocrinology and Reproductive Medicine University of Bonn 53105 Bonn Germany

Aim: To pursue whether cytogenetic aberrations correlate with specific spermatological or hormonal ***: 305 infertile couples were investigated. All male partners were referred to a complete andrological work-up with physical examination, determination of hormones, HIV testing and semen analysis. Cytogenetic analysis wascarded out in both partners by means of standard techniques using cultured lymphocytes from peripheral blood. Re-suits: Among the 305 couples, 10 men (3.2%) and 10 women (3.2%) showed constitutional chromosomal aber-rations, including reciprocal translocations (n = 7), Robertsonian translocations (n = 3), inversions (n = 3), otherstructural aberrations (n = 4) and sex chromosome aberrations (n = 3). In addition to the impaired sperm count inmost of the patients, a tendency to an increased proportion of spermatozoa with acrosome defect was observed. Con-clusion: Chromosomal aberrations may contribute to the low fertilization and pregnancy rates in the infertile couples.(Asian J Androl 2000 Dec; 2: 293-296)

关键词： male infertility intracytoplasmic sperm injection chromosome aberrations

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Induction of Chromosomal aberrations by Propoxur in Mouse Bone Marrow Cells

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Biomedical and Environmental Sciences 1999年第4期12卷 292-295页

作者： R. C. AGRAWAL(Laboratory of Environmental Carcinognesis, Industrial Toxicology ResearchCentre, Post Box No. 80, Mahatma Gandhi Marg, Lucknow, India) Industrial Toxicology Research Centre 印度

Propoxur is a widely used dithiocarbamate insecticide. In this study, the clastogenic effect of propoxur has been evaluated using chromosomal aberration assay in mouse bone marrow cells. Single i. p. administration of propoxur, at 25 mg/kg ***., a maximum tolerated dose (MTD) and 12 .5mg/kg *** (50% of MTD) have significantly induced different types of aberrations after 24 h of treatment. The aberrations were dose and time dependent and reached a maximum after 24 h of exposure. The sresult suggest a genotoxic potential of propoxur.

关键词： chromosome aberrations Animals Bone Marrow Cells DNA Damage Insecticides Male Mice Mutagenicity Tests Propoxur

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Cytogenetic analysis of chromosomal abnormalities in Sri Lankan children

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World Journal of Pediatrics 2015年第4期11卷 374-379页

作者： Sharmila Thillainathan Nirmala D.Sirisena Kariyawasam W.J.C.Kariyawasam Rohan W.Jayasekara Vajira H.W.Dissanayake Human Genetics Unit Faculty of MedicineUniversity of ColomboSri Lanka Asiri Center for Genomic and Regenerative Medicine Asiri Surgical HospitalColomboSri Lanka

Background: Cytogenetic analysis is a valuable investigation in the diagnostic work up of children with suspected chromosomal disorders. The objective of this study was to describe the prevalence of various types of chromosomal abnormalities in Sri Lankan children undergoing cytogenetic analysis. Methods: Cytogenetic reports of 1554 consecutive children with suspected chromosomal disorders who underwent karyotyping in two genetic centers in Sri Lanka from January 2006 to December 2011 were reviewed retrospectively. Results: A total of 1548 children were successfully karyotyped. Abnormal karyotypes were found in 783 (50.6%) children. Numerical and structural abnormalities accounted for 90.8% and 9.2%, respectively. Down syndrome was the commonest aneuploidy identifi ed. Other various autosomal and sex chromosomal aneuploidies as well as micro-deletion syndromes were also detected. Conclusions: The prevalence of chromosomal abnormalities in Sri Lankan children undergoing cytogenetic analysis for suspected chromosomal disorders was relatively higher than that in Caucasian and other Asian populations.

关键词： aneuploidy chromosome aberrations cytogenetic analysis karyotypes

chromosome　Aberration　as　a　Biological　Dosimeter　for　Mixed　n－γ　Irradiation　in　Different　Proportions

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中华放射医学与防护杂志 1995年第6期15卷 381-386页

作者： Wang Tian’en and Zhao Jiuwei Beijing Institute of Radiation Medcinc. Beijing，100850. P. R. China

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关键词： neutron radiation gamma radiation chromosome aberrations dose-responserelationships

Development and validation of prognostic implications of chromosome abnormalities algorithm for newly diagnosed multiple myeloma

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Blood Science 2021年第3期3卷 78-86页

作者： Tiancheng Luo Wanting Qiang Jing Lu Haiyan He Jin Liu Lu Li Hua Jiang Weijun Fu Juan Du Department of Hematology Myeloma&Lymphoma CenterShanghai Changzheng HospitalThe Second Military Medical UniversityShanghaiChina

Fluorescence in situ hybridization(FISH)evaluation is essential for initial risk stratification in multiple myeloma(MM).The presence of specific cytogenetic abnormalities(CA)confers a heterogeneity impact on ***,the cutoff values among different centers are not ***,we conduct this study to better predict the prognosis of newly diagnosed MM patients based on FISH *** Kaps method was used to calculate the chromosomal abnormal cutoff values.A total of 533 participants were included in the *** best cutoff value of overall survival were as follows:17p20.1%,13q85%,1q21+39%,t(11;14)55.5%,t(14;16)87%,and t(4;14)53.5%.The survival analysis showed that 17pand 1q21+were the independent factors affecting both OS and progress free survival(PFS)among *** analysis based on the cutoff value obtained by Kaps suggested that 13q,t(14;16),17p,and 1q21+were independent factors affecting OS among CA;t(14;16),17p,and 1q21+were independent factors affecting PFS among *** prognostic model was constructed by the Kaps method with the Harrell concordance index(c-index)at 0.719(95%CI,0.683–0.756;corrected 0.707),which was higher than that calculated by the European Myeloma Network criteria(0.714;95%CI,0.678–0.751;corrected 0.696).In conclusion,chromosomal abnormalities in different proportions and combinations can affect the prognosis ***,effective criteria should be formulated to evaluate the prognosis ofMMpatients better.

关键词： Multiple myeloma Fluorescent in situ hybridization chromosome aberrations Cytogenetic analysis Prognosis

Sugarcane Vinasse, a Residue of Ethanol Industry: Toxic, Cytotoxic and Genotoxic Potential Using the Allium cepa Test

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Journal of Environmental Protection 2016年第5期7卷 602-612页

作者： Janaína Pedro-Escher Cintya A. Christofoletti Yadira Ansoar-Rodríguez Carmem S. Fontanetti UNESP—S?o Paulo State University Rio Claro Brazil UNIARARAS—Hermínio Ometto Foundation Araras Brazil Department of Pharmacology and Toxicology Pharmacy and Food Institute University of Havana Havana Cuba

The search for fuels to replace petroleum consumption has caused an increase in the production of biofuels worldwide. The ethanol, which comes from sugarcane, is an energy resource with low polluting potential, but its production generates other environmental problems. On average, 10 to 15 liters of vinasse are generated while preparing each liter of ethanol. Vinasse is the final by-product of the biomass distillation, mainly for the production of ethanol, from different cultures such as sugarcane. Because excessive quantities of vinasse are produced, alternatives have been required for use, for example as fertilizer, in a process known as fertigation. These excessive amounts of vinasse applied in soils have generated adverse effects on soil properties and to the organisms. This study carried out the toxic, cytotoxic and genotoxic potential of sugarcane vinasse obtained from two different harvests (Samples I and II), using the Allium cepa organism test. A. cepa seeds were exposed to raw vinasse (RV) and diluted in different concentrations: control soil + raw vinasse (SV);vinasse diluted in water at 50% + control soil (V 50%);vinasse diluted in water at 25% + control soil (V 25%);vinasse diluted in water at 12.5% + control soil (V 12.5%). The chemical characterization of vinasse samples showed a low pH and high concentration of potassium. The results demonstrate that the two RV samples tested are toxic, since no seeds germination was observed. The cytotoxic potential was observed in the sample II of SV and V (50%). All groups evaluated in samples I and II, induced chromosomal alterations, statistically significant compared with negative control. An increase in frequency of micronuclei in meristematic cells was observed in the SV (Sample I) and all groups evaluated in samples II. Based on the results it is concluded that the genetic material of the test-system was damaged when exposed to sugarcane vinasse, suggesting that one should be very careful in the use of this

关键词： Micronucleus chromosome aberrations Agroindustrial Residue

Opinion on reconsideration of lung cancer risk from domestic radon exposure

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Radiation Medicine and Protection 2020年第1期1卷 48-54页

作者： Robert Nilsson Jian Tong Vinca Institute of Nuclear Sciences Laboratory for Physical ChemistryUniversity of Belgrade11000BelgradeSerbia School of Public Health Medical College of Soochow UniversitySuzhou215123SuzhouChina

Two extensive collaborative meta studies including 13 residential case-control studies from Europe and 7 from North America have demonstrated that domestic radon clearly poses a risk for lung cancer at exposure levels approaching those for underground *** excess risk for lung cancer of 0.08–0.16 per 100 Bq/m3 increase in radon concentration was obtained,with a positive trend of increased relative risk at above 200 Bq/***,estimation of the cancer risk associated with domestic radon obtained by the pooling of multiple casecontrol studies has led to inaccuracies of the derived risk estimates in the low dose range,mainly due to smoking misclassification bias,uncertainties with respect to radon dosimetry,the histopathological characterization of lung cancers,as well as confounding by co-exposures with tobacco smoke and other indoor air *** with a lack of biological plausibility,these deficiencies have a negative impact on the reliability of reported statistical relations between radon exposure and lung cancer at concentrations below 200 Bq/*** is vital that costly remedial actions to reduce domestic radon exposure are based on a scientifically robust risk assessment,and in view of aforementioned flaws,the hitherto proposed risk estimates need to be reconsidered.

关键词： Domestic radon Dosimetry Lung cancer Histopathology Risk estimate Misclassification Smoking chromosome aberrations

A Chinese family with fragile X syndrome and atypical Becker muscular dystrophy

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A Chinese family with fragile X syndrome and atypical Becker...