• Title, Summary, Keyword: Cytogenetics

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Overview of Cytogenetic Technologies (세포유전학 기술에 관한 고찰)

  • Kang, Ji-Un
    • Korean Journal of Clinical Laboratory Science
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    • v.50 no.4
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    • pp.375-381
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    • 2018
  • Cytogenetic analysis plays an important role in examinations of a variety of human disorders. Over the years, cytogenetic analysis has evolved to a great extent and become a part of routine laboratory testing; the analysis provides significant diagnostic and prognostic results for human diseases. Microarray in conjunction with molecular cytogenetics and conventional chromosome analysis has transformed the outcomes of clinical cytogenetics. The advantages of microarray technologies have become obvious to the medical and laboratory community involved in genetic diagnosis, resulting in greatly improved visualization and validation capabilities. This article reviews how the field is moving away from conventional cytogenetics towards molecular approaches for the identification of pathogenic genomic imbalances and discusses practical considerations for the routine implementation of these technologies in genetic diagnosis.

Cryopreservation of Testicular Spermatozoa using Mouse Zona Pellucida in Intracytoplasmic Sperm Injection Program (ICSI 프로그램에서 생쥐 투명대를 이용한 고환조직내 정자의 동결)

  • Suh, Tae-Kwang;Jeon, Byeong-Gyun;Ryu, Eun-Kyung;Lee, Eun-Sook;Ryoo, Zae-Yoong;Sohn, Sea-Hwan;Moon, Jin-Soo;Kim, Kwang-Chull
    • Clinical and Experimental Reproductive Medicine
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    • v.24 no.2
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    • pp.187-192
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    • 1997
  • The survival rate and motility recovered after cryopreservation of testicular spermatozoa in testicular sperm extraction (TESE)-ICSI program is low. The purpose of this study was to assess the availability and efficiency of mouse empty zona pellucida in cryopreserving human TESE spermatozoa. Mouse empty zonae pellucidae were obtained by extraction of cytoplasm with or without cytochalasin B treatment. Motile sperm from proven-fertile donor and two azoospermic patients after TESE were individually inserted into empty zona pellucida and cryopreserved. Two to five days after cyropreservation, the frozen sperm were thawed and the rates of recovery and motility were observed. The ooplasmic extraction rates of control (N=80) and cytochalasin B treated oocytes (N=80) were 94.0% and 96.2%, respectively (p>0.05). The post-thaw recovery rates of spermatozoa and rates of motility recovery of ejaculate (N=70) and testicular (N=70) sperm were 97.1%, 97.1% and 95.7%, 94.3%, respectively (p>0.05). The results of this study showed that the mouse zone pellucida is useful for cryostorage of single testicular spermatozoa.

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Post-cancer Treatment with Condurango 30C Shows Amelioration of Benzo[a]pyrene-induced Lung Cancer in Rats Through the Molecular Pathway of Caspase-3-mediated Apoptosis Induction -Anti-lung cancer potential of Condurango 30C in rats-

  • Sikdar, Sourav;Mukherjee, Avinaba;Bishayee, Kausik;Paul, Avijit;Saha, Santu Kumar;Ghosh, Samrat;Khuda-Bukhsh, Anisur Rahman
    • Journal of Pharmacopuncture
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    • v.16 no.3
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    • pp.11-22
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    • 2013
  • Objectives: The present investigation aimed at examining if post-cancer treatment with a potentized homeopathic drug, Condurango 30C, which is generally used to treat oesophageal cancer, could also show an ameliorating effect through apoptosis induction on lung cancer induced by benzo[a]pyrene (BaP) in white rats (Rattus norvegicus). Methods: Lung cancer was induced after four months by chronic feeding of BaP to rats through gavage at a dose of 50 mg/kg body weight for one month. After four months, the lung-cancer-bearing rats were treated with Condurango 30C for the next one ($5^{th}$), two ($5^{th}-6^{th}$) and three ($5^{th}-7^{th}$) months, respectively, and were sacrificed at the corresponding time-points. The ameliorating effect, if any, after Condurango 30C treatment for the various periods was evaluated by using protocols such as histology, scanning electron microscopy (SEM), annexinV-FITC/PI assay, flow cytometry of the apoptosis marker, DNA fragmentation, reverse transcriptase-polymerase chain reaction (RT-PCR), immunohistochemistry, and western blot analyses of lung tissue samples. Results: Striking recovery of lung tissue to a near normal status was noticed after post-cancerous drug treatment, as evidenced by SEM and histology, especially after one and two months of drug treatment. Data from the annexinV-FITC/PI and DNA fragmentation assays revealed that Condurango 30C could induce apoptosis in cancer cells after post-cancer treatment. A critical analysis of signalling cascade, evidenced through a RT-PCR study, demonstrated up-regulation and down-regulation of different pro- and anti-apoptotic genes, respectively, related to a caspase-3-mediated apoptotic pathway, which was especially discernible after one-month and two-month drug treatments. Correspondingly, Western blot and immunohistochemistry studies confirmed the ameliorative potential of Condurango 30C by its ability to down-regulate the elevated epidermal growth factor receptor (EGFR) expression, a hallmark of lung cancer. Conclusion: The overall result validated a positive effect of Condurango 30C in ameliorating lung cancer through caspase-3-mediated apoptosis induction and EGFR down-regulation.

mTOR signalling pathway - A root cause for idiopathic autism?

  • Ganesan, Harsha;Balasubramanian, Venkatesh;Iyer, Mahalaxmi;Venugopal, Anila;Subramaniam, Mohana Devi;Cho, Ssang-Goo;Vellingiri, Balachandar
    • BMB Reports
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    • v.52 no.7
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    • pp.424-433
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    • 2019
  • Autism spectrum disorder (ASD) is a complex neurodevelopmental monogenic disorder with a strong genetic influence. Idiopathic autism could be defined as a type of autism that does not have a specific causative agent. Among signalling cascades, mTOR signalling pathway plays a pivotal role not only in cell cycle, but also in protein synthesis and regulation of brain homeostasis in ASD patients. The present review highlights, underlying mechanism of mTOR and its role in altered signalling cascades as a triggering factor in the onset of idiopathic autism. Further, this review discusses how distorted mTOR signalling pathway stimulates truncated translation in neuronal cells and leads to downregulation of protein synthesis at dendritic spines of the brain. This review concludes by suggesting downstream regulators such as p70S6K, eIF4B, eIF4E of mTOR signalling pathway as promising therapeutic targets for idiopathic autistic individuals.

Cytogenetic and Clinical Analysis for Antenatal Diagnosis in Amniotic Fluid (산전 태아 진단을 위한 양수의 세포유전학적 분석)

  • Oh, Hyun-Sook;Kim, Mi-Kyeong;Kim, Seong-Mi
    • Korean Journal of Clinical Laboratory Science
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    • v.39 no.3
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    • pp.151-155
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    • 2007
  • Diagnosis and prevention of cytogenetics diseases are one of the most important parts in prenatal care. For that reason, it is necessary to examine birth defects. However, there is no reliable statistical data about birth defects in our country. In this study, the ratio of birth defects were determined by cytogenetics analysis and amniocentesis, in addition, the usefulness of amniocentesis was analyzed. The screening test and the triple marker test were conducted for 3,325 pregnant women of between 15 and 22 weeks gestation. Amniocentesis was performed for 170 pregnant women who were positive in the two tests, 184 women of advanced maternal age and 48 women with family history of chromosome aberrations. Among 419 women, 8 pregnant women who were positive in the triple marker test, 1 woman who close to the cut-off value in the triple marker test, 2 women with advanced maternal age and 1 woman who has history of chromosome aberration pregnance that was positive in cytogenetics analysis. The overall incidence of chromosomal aberration was 12 cases including 7 cases of Down's syndrome, 1 case of Patau syndrome, 1 case of Klinefelter syndrome, 1 case of Edward syndrome, 1 case of Robertsonian translocation and 1 case of XYY syndrome. These results show that amniocentesis for pregnant women who need chromosome test in prenatal cytogenetics analysis is very useful.

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PHA-Induced Peripheral Blood Cytogenetics and Molecular Anslysis : a Valid Diagnostic and Follow-up Modality For Acute Primyelocytic Leukemia Patients Treated With ATRA and/or Arsenic Tri-oxide

  • Baba, Shahid M;Azad, Niyaz A;Shah, Zaffar A;Afroze, Dil;Pandith, Arshad A;Jan, Aleem;Aziz, Sheikh A;Dar, Fayaz A
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.4
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    • pp.1999-2006
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    • 2016
  • Background: Acute promyelocytic leukemia (APML) is characterized by the reciprocal translocation t(15;17) (p22;p12) resulting in the PML-$RAR{\alpha}$ fusion gene. A dual diagnostic and follow up approach was applied including cytogenetic demonstration of the t(15;17) translocation and detection dg PML-$RAR{\alpha}$ chimeric transcripts by molecular means. Purpose: Conventional cytogenetics involving bone marrow is beset with high probability of poor metaphase index and was substituted with phytohemagglutinin (PHA)-induced peripheral blood culture based cytogenetic analysis as a diagnostic & follow up modality in APML patients of Kashmir (North India). Both qualitative (RT-PCR) and quantitative (Q-PCR) tests were simultaneously carried out to authenticte the modified cytogenetics. Materials and Method: Patient samples were subjected to the said techniques to establish their baseline as well as follow-up status. Results: Initial cytogenetics revealed 30 patients (81%) Positive for t(15;17) whereas 7 (19%) had either cryptic translocation or were negative for t(15;17). Two cases had chromosome 16q deletion and no hallmark translocation t(15;17). Q-PCR status for PML-$RAR{\alpha}$ was found to be positive for all patients. All the APML patients were reassessed at the end of consolidation phase and during maintenance phase of chemotherapy where 6 patients had molecular relapse, wherein 4 also demonstrated cytogenetic relapse. Conclusions: It was found that PHA-induced peripheral blood cytogenetics along with molecular analysis could prove a reliable modality in the diagnosis and assessment of follow up response of APML patients.

Effect of Treatment and Samples of Human Follicular Fluid on Development In Vitro of Mouse Embryos (사람 난포액의 처리 방법과 Sample이 생쥐 수정란의 체외 발달율에 미치는 영향)

  • Jeon, Byeong-Gyun;Choi, Yeon-Hee;Jo, Eun-Jung;Song, Gun-Ho;Kwak, Dae-Oh;Moon, Jin-Soo;Kim, Kwang-Chul
    • Clinical and Experimental Reproductive Medicine
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    • v.27 no.4
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    • pp.359-366
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    • 2000
  • The present studt was performed to investigate the effect of treatment and samples of human follicular fluid (hFF) on the development in vitro of mouse embryos. The two cell stage embryos collected at 40 h post-hCG injection were cultured in the modified human tubal fluid (m-RTF) containing 15% synthetic serum substitute (SSS) or human tubal fluid (hFF) for up to 3 days at $37^{\circ}C$ in 5% $CO_2$ incubator. Also the composition of hormone, total protein and protein pattern of hFF samples were analyzed. The developmental rate of mouse embryos developed to blastocyst were not significant difference in the m-RTF containing 15% hFF filtered with 0.22 or 0.8 ${\mu}m$ syringe filter, however, the embryos cultured in the m-RTF containing inactivated hFF were significantly (p<0.05) developed at the high rate to blastocyst than those containing fresh hFF and SSS. The in vitro developmental rate to blastocyst and hatched blastocyst in the m-RTF containing 15% hFF sample A (90.5 and 85.4%, respectively) and SSS (79.4 and 75.3, respectively) were significantly (p<0.05) increased, compared with hFF sample B (64.2 and 54.1 %, respectively). The hFF sample A tended to be higher concentration of LH, FSR, total protein and the ratio of progesterone/$E_2$ and lower concentration of $E_2$ and progesterone than the hFF sample B, but there were no differences in the protein pattern between the two hFF samples. The results of these study suggest that the addition of hFF to the culture medium enhances the development in vitro to blastocyst and hatched blastocyst, but the in vitro developmental rate of mouse embryos is different between hFF samples.

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