• Title/Summary/Keyword: cytogenetics

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TP53 Polymorphisms in Sporadic North Indian Breast Cancer Patients

  • Sharma, Sarika;Sambyal, Vasudha;Guleria, Kamlesh;Manjari, Mridu;Sudan, Meena;Uppal, Manjit Singh;Singh, Neeti Rajan;Bansal, Darpan;Gupta, Arun
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.16
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    • pp.6871-6879
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    • 2014
  • Background: The purpose of this study was to evaluate the potential association of five (p.P47S, p.R72P, PIN3 Ins16bp, p.R213R and r.13494g>a) polymorphisms of TP53 with the risk of developing breast cancer in North Indian Punjabi population. Methods: We screened DNA samples of 200 sporadic breast cancer patients (197 females and 3 males) and 200 unrelated healthy, gender and age matched individuals for the polymorphisms. Results: For the p.P47S polymorphism, we observed the PP genotype in 99.5% of the patients and PS genotype in only 1 patient. All the controls had the wild type PP genotype. The frequency of RR, RP and PP genotype of p.R72P was 23.5% vs 33.5%, 51.5% vs 45.5% and 25% vs 21% in patients and controls respectively. Heterozygous (RP) genotype was increased in breast cancer patients as compared to controls (51.5 vs 45.5%) and showed 1.61 fold significantly increased risk for breast cancer (OR=1.61, 95% CI, 1.01-2.58, p=0.04). In breast cancer patients the frequencies of A1A1, A1A2 and A2A2 genotypes of PIN3 Ins16bp polymorphism were 67%, 26% and 7% respectively whereas in controls the genotype frequencies were 68.5%, 27.5% and 4% respectively, with no significant difference. For p.R213R (c.639A>G), all individuals had homozygous wild type genotype. The frequencies of GG, GA and AA genotypes of TP53 r.13494g>a polymorphism were 62 vs 67.5%, 33 vs 28% and 5 vs 4.5% in patients and controls respectively, again without significant difference. We observed that RP-A1A1 genotype combination of p.R72P and PIN3 Ins16bp and RP-GG combination of p.R72P and r.13494g>a polymorphism showed significant risk of breast cancer (OR=1.65, 95%CI: 0.98-2.78, p=0.05; OR=1.72, 95%CI: 1.01-2.92, p=0.04). Conclusion: The results of present study indicated that among the five TP53 polymorphisms investigated, the p.R72P polymorphism, and the RP-A1A1 and RP-GG genotype combination contribute to breast cancer susceptibility in North Indians.

Karyotype Analysis of Korean Spotted Serpent Head [Channa argus (Cantor); Channiformes, Channidae] (한국산 가물치[Channa argus (Cantor);가물치목, 가물치과]의 핵형분석)

  • 이석우;이영재
    • The Korean Journal of Zoology
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    • v.29 no.2
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    • pp.75-78
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    • 1986
  • Karyotypes of Korean spotted serpent head [Channa argus (Cantor)] were analyzed to obtain a basic information on the cytogenetics of this fish. Diploid chromosome numbers were found to be 48, of which 2 were submetacentric, 10 were submeta- or subtelocentric, and 26 were acro- or telocentric chromosomes without notably hetermorphic sex chromosomes. Cytogenetical implications of the results are discussed.

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Importance of FISH combined with Morphology, Immunophenotype and Cytogenetic Analysis of Childhood/Adult Acute Lymphoblastic Leukemia in Omani Patients

  • Goud, Tadakal Mallana;Al Salmani, Kamla Khalfan;Al Harasi, Salma Mohammed;Al Musalhi, Muhanna;Wasifuddin, Shah Mohammed;Rajab, Anna
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.16
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    • pp.7343-7350
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    • 2015
  • Genetic changes associated with acute lymphoblastic leukemia (ALL) provide very important diagnostic and prognostic information with a direct impact on patient management. Detection of chromosome abnormalities by conventional cytogenetics combined with fluorescence in situ hybridization (FISH) play a very significant role in assessing risk stratification. Identification of specific chromosome abnormalities has led to the recognition of genetic subgroups based on reciprocal translocations, deletions and modal number in B or T-cell ALL. In the last twelve years 102 newly diagnosed childhood/adult ALL bone marrow samples were analysed for chromosomal abnormalities with conventional G-banding, and FISH (selected cases) using specific probes in our hospital. G-banded karyotype analysis found clonal numerical and/or structural chromosomal aberrations in 74.2% of cases. Patients with pseudodiploidy represented the most frequent group (38.7%) followed by high hyperdiploidy group (12.9%), low hyperdiploidy group (9.7%), hypodiploidy (<46) group (9.7%) and high hypertriploidy group (3.2%). The highest observed numerical chromosomal alteration was high hyperdiploidy (12.9%) with abnormal karyotypes while abnormal 12p (7.5%) was the highest observed structural abnormality followed by t(12;21)(p13.3;q22) resulting in ETV6/RUNX1 fusion (5.4%) and t(9;22)(q34.1;q11.2) resulting in BCR/ABL1 fusion (4.3%). Interestingly, we identified 16 cases with rare and complex structural aberrations. Application of the FISH technique produced major improvements in the sensitivity and accuracy of cytogenetic analysis with ALL patients. In conclusion it confirmed heterogeneity of ALL by identifying various recurrent chromosomal aberrations along with non-specific rearrangements and their association with specific immunophenotypes. This study pool is representative of paediatric/adult ALL patients in Oman.

Post-cancer treatment of Condurango 30C, traditionally used in homeopathy, ameliorates tissue damage and stimulates reactive oxygen species in benzo[a]pyrene-induced lung cancer of rat

  • Sikdar, Sourav;Khuda-Bukhsh, Anisur Rahman
    • CELLMED
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    • v.3 no.3
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    • pp.25.1-25.8
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    • 2013
  • Homoeopathically prepared Condurango 30C is traditionally used in amelioration of certain types of cancer by homeopathic practitioners. In this study, ability of Condurango 30C in amelioration of the conventional benzo[a]pyrene (BaP)-induced lung cancer in rat has been tested. After one month of scheduled oral feeding of BaP, lung cancer is routinely developed after four months in rats. Tumorbearing rats were then treated with Condurango 30C for the next one ($5^{th}$), two ($6^{th}$) and three ($7^{th}$) months, respectively, and sacrificed. Efficacy of post-cancer treatment by Condurango 30C was evaluated against controls (placebo) by different study parameters like: body and lung weights, number and diameter of lung tumour nodules, lung architecture, DNA damage, anti-oxidant activity and reactive oxygen species (ROS) accumulation. Administration of this homeopathic remedy caused increase of body weight and decrease of lung weight, decrease in number and diameter of lung tumour nodules, particularly after one and two months of drug treatment. BaP intoxication significantly increased lipid peroxidase (LPO) with concomitant decrease in activities of different antioxidants, while Condurango 30C administration certainly reduce their levels than normal and cancerous groups, notably after one and two months' of drug treatment. Condurango 30C showed capability to induce ROS-mediated cell death evidenced from the study of ROS activities at different time-points. Further, the remedy possibly achieved its anticancer goal through mediation of DNA-nicks that possibly led cancer cells to the apoptotic pathway. Thus, Condurango 30C has anticancer potential in BaP-induced lung cancer of rats via tissue damage recovery and ROS-mediated programmed cell death.

New Haplotypes of the ATP Synthase Subunit 6 Gene of Mitochondrial DNA are Associated with Acute Lymphoblastic Leukemia in Saudi Arabia

  • Yacoub, Haitham Ahmed;Mahmoud, Wael Mahmoud;El-Baz, Hatim Alaa-Eldeen El-Din;Eid, Ola Mohamed;El-Fayoumi, Refaat Ibrahim;Mahmoud, Maged Mostafa;Harakeh, Steve;Abuzinadah, Osama H.A.
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.23
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    • pp.10433-10438
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    • 2015
  • Background: Acute lymphoblastic leukemia (ALL) is the most common cancer diagnosed in children and represents approximately 25% of cancer diagnoses among those younger than 15 years of age. Aim and Objectives: This study investigated substitutions in the ATP synthase subunit 6 gene of mitochondrial DNA (mtDNA) as a potential diagnostic biomarker for early detection and diagnosis of acute lymphoblastic leukemia. Based on mtDNA from 23 subjects diagnosed with acute lymphoblastic leukemia, approximately 465 bp of the ATP synthase subunit 6 gene were amplified and sequenced. Results: The sequencing revealed thirty-one mutations at 14 locations in ATP synthase subunit 6 of mtDNA in the ALL subjects. All were identified as single nucleotide polymorphisms (SNPs) with a homoplasmic pattern. The mutations were distributed between males and females. Novel haplotypes were identified in this investigation: haplotype (G) was recorded in 34% in diagnosed subjects; the second haplotype was (C) with frequency of 13% in ALL subjects. Neither of these were observed in control samples. Conclusions: These haplotypes were identified for the first time in acute lymphoblastic leukemia patients. Five mutations able to change amino acid synthesis for the ATP synthase subunit 6 were associated with acute lymphoblastic leukemia. This investigation could be used to provide an overview of incidence frequency of acute lyphoblastic leukemia (ALL) in Saudi patients based on molecular events.

Novel Mutations in the Displacement Loop of Mitochondrial DNA are Associated with Acute Lymphoblastic Leukemia: A Genetic Sequencing Study

  • Yacoub, Haitham Ahmed;Mahmoud, Wael Mahmoud;El-Baz, Hatim Alaa El-Din;Eid, Ola Mohamed;ELfayoumi, Refaat Ibrahim;Elhamidy, Salem Mohamed;Mahmoud, Maged M.
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.21
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    • pp.9283-9289
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    • 2014
  • Background: Acute lymphoblastic leukemia (ALL) is the most common cancer diagnosed in children and represents approximately 25% of cancer diagnoses among those younger than 15 years of age. Materials and Methods: This study investigated alterations in the displacement loop (d-loop) region of mitochondrial DNA (mtDNA) as a risk factor and diagnostic biomarker for early detection and diagnosis of acute lymphoblastic leukemia. Using mtDNA from 23 subjects diagnosed with acute lymphoblastic leukemia, the first 450 bp of the d-loop region were amplified and successfully sequenced. Results: This revealed 132 mutations at 25 positions in this region, with a mean of 6 alterations per subject. The d-loop alterations in mtDNA in subjects were all identified as single nucleotide polymorphisms in a homoplasmic distribution pattern. Mutant alleles were observed in all subjects with individual frequency rates of up to 95%. Thirteen mutant alleles in the d-loop region of mtDNA occurred with a high frequency. Novel alleles and locations were also identified in the d-loop of mtDNA as follows: 89 G insertions (40%), 95 G insertions (13%), 182 C/T substitutions (5%), 308 C insertions (19%), and 311 C insertions (80%). The findings of this study need to be replicated to be confirmed. Conclusions: Further investigation of the relationship between mutations in mitochondrial d-loop genes and incidence of acute lymphoblastic leukemia is recommended.

No Association between the CCR5Δ32 Polymorphism and Sporadic Esophageal Cancer in Punjab, North-West India

  • Sambyal, Vasudha;Manjari, Mridu;Sudan, Meena;Uppal, Manjit Singh;Singh, Neeti Rajan;Singh, Harpreet;Guleria, Kamlesh
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.10
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    • pp.4291-4295
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    • 2015
  • Background: Chemokines and their receptors influence carcinogenesis and cysteine-cysteine chemokine receptor 5 (CCR5) directs spread of cancer to other tissues. A 32 base pair deletion in the coding region of CCR5 that might alter the expression or function of the protein has been implicated in a variety of immune-mediated diseases. The action of antiviral drugs being proposed as adjuvant therapy in cancer is dependent on CCR5 wild type status. In the present study, distribution of CCR5${\Delta}32$ polymorphism was assessed in North Indian esophageal cancer patients to explore the potential of using chemokine receptors antagonists as adjuvant therapy. Materials and Methods: DNA samples of 175 sporadic esophageal cancer patients (69 males and 106 females) and 175 unrelated healthy control individuals (69 males and 106 females) were screened for the CCR5${\Delta}32$ polymorphism by direct polymerase chain reaction (PCR). Results: The frequencies of wild type homozygous (CCR5/CCR5), heterozygous (CCR5/${\Delta}32$) and homozygous mutant (${\Delta}32/{\Delta}32$) genotypes were 96.0 vs 97.72%, 4.0 vs 1.71% and 0 vs 0.57% in patients and controls respectively. There was no difference in the genotype and allele frequencies of CCR5${\Delta}32$ polymorphism in esophageal cancer patients and control group. Conclusions: The CCR5${\Delta}32$ polymorphism is not associated with esophageal cancer in North Indians. As the majority of patients express the wild type allele, there is potential of using antiviral drug therapy as adjuvant therapy.

Fission Yeast-based Screening to Identify Putative HDAC Inhibitors Using a Telomeric Reporter Strain

  • Chung, Kyung-Sook;Ahn, Jiwon;Choi, Chung-Hae;Yim, Nam Hui;Kang, Chang-Mo;Kim, Chun-Ho;Lee, Kyeong;Park, Hee-Moon;Song, Kyung-Bin;Won, Misun
    • Molecules and Cells
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    • v.26 no.1
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    • pp.93-99
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    • 2008
  • Transcriptional silencing is regulated by promoter methylation and histone modifications such as methylation and acetylation. We constructed a Schizosaccaromyces pombe reporter strain, KCT120a, to identify modifiers of transcriptional silencing, by inserting the $ura4^+$ gene into a heterochromatic telomere region. Two compounds inhibited the activity of histone deacetylases, induced acetylation of histone H3 and caused apoptotic cell death in HeLa cells. Expression of gelsolin and $p21^{waf1/cip1}$ also increased, as it does in response to HDAC inhibitors such as TSA. Therefore, these compounds appear to be potent inhibitors of HDACs, and hence potential anti-cancer drugs. Our observations suggest that a yeast cell-based assay system for transcriptional silencing may be useful for identifying histone deacetylase inhibitors and other agents affecting chromatin remodeling.

Analyses of Morphological Characteristics, Antibiotic Effect, and Molecular Cytogenetics in Baegseon (Dictamnus dasycarpus Turcz) (백선의 형태적 특성, 항균 효과 및 분자 세포학적 분석)

  • Chung, Dae-Soo;Cho, Chang-Woo;Kim, Kyung-Mee;Heo, Jee-Eun;Kim, Soo-Young;Chung, Young-Soo;Kim, Doh-Hoon;Bang, Jae-Wook;Cui, Zheng;Lee, Jai-Heon
    • Journal of Life Science
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    • v.16 no.7 s.80
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    • pp.1195-1198
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    • 2006
  • The importance of wild plant resources along with the development of high biotecyhnology is highlighted for exploitation of new materials which can make the added value. The goal of this study is providing fundamental data bases for developing new materials through the analyses of morphological characteristics, antibiotics and molecular cytogenetics in Baegseon (Dictamnus dasycarpus Turcz.). Baegseon has several characteristics; there are two types of flower color, pink and white, the seed germination starts about February 20th, the maximum flowering season is around May 17th in southern Korea, the growth period is about 60 days. The number of chromosomes are 2n=2x=36, the size of chromosomes in metaphase is $4.2{\sim}8.1{\mu}m$. The amount of 2C nuclear DNA is 1.93pg, and there is no variation of genome size amoung varieties. The extraction juice of baegseon young roots has the excellent antibiotic activity against the mold (Botrytis cinerea).