• 제목/요약/키워드: Chromosomal Aberrations

검색결과 120건 처리시간 0.028초

치아모세포와 키토산으로 강화된 생체 적합 칼슘인산시멘트와의 상호작용 (Interaction between odontoblast and bio-calcium phosphate cement reinforced with chitosan)

  • 전병도;김성원;이성탁;김태훈;;김규천;김용덕;김욱규
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • 제37권5호
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    • pp.415-420
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    • 2011
  • Purpose: Calcium phosphate cement (CPC) is one of many useful materials for restoring tooth defects, periodontium and maxillofacial area. Chitosan is a biodegradable material that has been shown to promote the growth and differentiation of osteoblasts in culture. This study examined the interaction between odontoblasts and bio-calcium phosphate cement reinforced with chitosan. Materials and Methods: $5{\times}10^3$ odontoblastic cells were seeded into each well. Various concentrations of bio-calcium phosphate cement reinforced with chitosan (10, 20, 50, 100, 200, 500 ${\mu}g$/ml, 1, 2, 4 mg/ml) were diluted and added to the wells. The well was incubated for 24 h, 48 h and 72 h. After incubation, the number of cells was assessed to determine the cell viability. A cytokinesis-block micronucleus assay and chromosomal aberration test were carried out to estimate the extent of chromosomal abnormalities. Microscopic photographs and RT-PCR were performed to examine the adhesion potential of bio-calcium phosphate cement reinforced with chitosan. Results: Bio-CPC-reinforced chitosan did not show significant cytotoxicity. The number of damaged chromosomes in the cells treated with Bio-CPC-reinforced chitosan was similar to that in the control cells. There was no significant increase in the number of chromosomal aberrations in the Bio-CPC reinforced chitosan exposed cells. Microscopic photographs and RT-PCR confirmed the adhesive potential of bio-CPC reinforced chitosan to odontoblasts. Conclusion: Bio-CPC-reinforced chitosan did not affect the odontoblastic cell viability, and had no significant cytotoxic effect. Bio-CPC-reinforced chitosan showed adhesive potential to odontoblasts. These results are expected form the basis of future studies on the effectiveness of dental restorative materials in Bio-CPC reinforced with chitosan.

말초혈액을 이용한 핵형 분석 4,500례 : 단일기관에서의 25년간의 경험 (Chromosomal analyses of 4,500 cases of the peripheral blood : An experience in a single hospital for 25 years)

  • 서혜은;이지혜;김지윤;이동하;이흥교;이건수
    • Clinical and Experimental Pediatrics
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    • 제50권9호
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    • pp.875-881
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    • 2007
  • 목 적 : 염색체의 구조 및 유전을 연구하는 학문인 세포유전학은 임상 진단, 생식 문제, 산전 진단, 종양, 유전자의 다형성 및 유전 상담에 있어 중요한 역할을 하고 있다. 이 연구는 단일 기관에서 시행된 말초혈액을 이용한 세포유전학 검사 결과를 검토하여 주요 염색체 이상의 양상과 빈도를 분석하였다. 방 법 : 1981년 5월부터 2005년 10월까지 25년간 경북대학교병원 소아과 염색체 검사실로 각 임상 진료과에서 염색체 이상이 의심되어 의뢰한 말초혈액 검체 4,856례를 대상으로 하여 염색체 핵형을 분석하였다. 결 과 : 총 4,856례 가운데 4,567례를 분석하였다. 이 중 소아는 3,014례(66.0%), 성인은 1,553례(34.0%)였으며, 검사를 의뢰한 가장 흔한 이유는 소아에서는 성장과 발달 장애, 성인에서는 생식 문제였다. 4,567례 중 염색체 이상은 770례(16.9%)에서 발견되었다. 염색체 이상 중 수적 이상은 558례(12.2%), 구조적 이상은 187례(4.1%)였으며, 취약부위나 염색체 파손과 같은 이상이 25례(0.5%)였다. 수적 이상 중 상염색체 이상은 Down 증후군이 294례(6.4%)로 가장 많았으며, Edwards 증후군 7례(0.2 %), Patau 증후군 4례(0.1%) 순이었다. 성염색체의 이상은 Klinefelter 증후군이 131례(2.9%)로 가장 많았고, Turner 증후군 99례(2.2%), XXX 증후군 8례(0.2%), XYY 증후군 3례(0.1%) 순이었다. 구조적 이상은 전위가 84례(1.8%)로 가장 많았다. 결 론 : 본 연구에서 염색체 이상 핵형의 유형과 그 양상을 파악하였으며, 적극적 세포유전학적 연구로 진료와 유전상담에 적용하여야 할 것이다.

Multi-Parameter Approach for Evaluation of Genomic Instability in the Polycystic Ovary Syndrome

  • Sekar, Nishu;Nair, Manju;Francis, Glory;Kongath, Parvathy Raj;Babu, Sandhya;Raja, Sudhakaran;Gopalakrishnan, Abilash Valsala
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권16호
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    • pp.7129-7138
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    • 2015
  • Background: The polycystic ovary syndrome (PCOS), characterized by hyperandrogenism and chronic anovulation, is a common endocrine disorder in women. PCOS, which is associated with polycystic ovaries, hirsutism, obesity and insulin resistance, is a leading cause of female infertility. In this condition there is an imbalance in female sex hormones. All the sequelae symptoms of PCOS gradually lead to cancer in the course of time. It is heterogeneous disorder of unknown etiology so it is essential to find the exact cause. Materials and Methods: In this study both invasive and non-invasive techniques were employed to establish the etiology. Diagnosis was based on Rotterdam criteria (hyperandrogenism, ovulatory dysfunction, PCOM) and multiparameters using buccal samples and dermatoglypic analysis and cytogenetic study for 10 cases and four age and sex matched controls. Results: In clinical analysis we have observed the mean value of total testosterone level was 23.6nmol/L, total hirsutism score was from 12-24, facial acne was found in in 70% patients with 7-12 subcapsular follicular cysts, each measuring 2-8 mm in diameter. In dermatoglypic analysis we observed increases in mean value ($45.9^{\circ}$) of ATD angle when compared with control group and also found increased frequency (38%) of Ulnar loops on both fingers (UU), (18%) whorls on the right finger and Ulnar loop on left finger (WU) and (16%) arches on right and left fingers (AA) were observed in PCOS patients when compared with control subjects. Features which could be applied as markers for PCOS patients are the presence of Ulnar loops in middle and little fingers of right and left hand. The buccal micronucleus cytome assay in exfoliated buccal cells, we found decrease in frequency of micronuclei and significant increases in frequency of karyolysed nuclei in polycystic ovarian syndrome patients. Chromosome aberration analysis revealed a significant increase in frequency of chromosome aberrations (CAs) in PCOS patients when compared with controls. Conclusions: From this present work it can be concluded that non-invasive technique like dermatoglypics analysis and buccal micronucleus cytome assays with exfoliated buccal cell can also be effective biomarkers for PCOS, along with increased CAs in lymphocytes as a sign of genetic instability. There is a hypothesis that micronuclei and chromosomal aberrations could have a predictive value for cancer. From this present work it can be concluded to some extent that non-invasive technique like dermatoglypics and buccal cell analysis can also be effective for diagnosis.

방사선취급 병원근무자들의 염색체이상 및 자매염색분체교환 빈도 (Chromosome Aberrations and Sister Chromatid Exchanges of Hospital Workers Exposed to Radiation)

  • 차애리;김미선;황인경;이수일;조병만;김돈균
    • Journal of Preventive Medicine and Public Health
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    • 제31권4호
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    • pp.616-627
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    • 1998
  • In order to evaluate the cytogenetic hazard among hospital workers potentially exposed to low dose of radiation, the analysis of chromosome aberrations(CA) and sister chromatid exchanges(SCE) in lymphocytes were performed in 79 hospital workers and 79 non-exposed workers. The mean frequency of chromosomal exchange and deletion(respectively, $0.20\times10^{-2}/cell\;and\;0.39\times10^{-2}/cell$) in the exposed group were significantly higher than those$(0.07\times10^{-2}/cell\;and\;0.23\times10^{-2}/cell)$ in control group. The frequency of sister chromatid exchanges was 5.04/cell in the control vs. 6.57/cell in the exposed group. There were also significant differences in the mean frequencies of CA and SCE adjusted for age, sex, smoking, drinking between two groups. There were no evidence of significant increase of CA and SCE according to the department or duration of employment. But the frequency of cells having chromosome aberration was significantly higher in the exposed group than in the control group related to duration of employment. There was no dose-effect relationship between the cumulative doses and the frequency of CA and SCE. But in the case of last 1 yr cumulative dose, there were evidence of significant dose-dependant increase of chromosome type CA and percentage of cells with aberration. The result suggest that there is cytogenetic hazard in risk group like hospital workers handling low dose radiation. And the analysis CA and SCE are useful biological indicators for the exposure of low dose level of radiation.

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간호교육에서의 유전학 교육과정 현황과 요구 (The Current Status and Educational Requirements for Genetics Curriculum at Nursing Institutions)

  • 홍해숙;변영순;나연경
    • Journal of Korean Biological Nursing Science
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    • 제5권1호
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    • pp.13-22
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    • 2003
  • The purpose of this study was to investigate and analyze current educational requirements related to genetics curriculum(from June 2002 to September 2002) established at nursing institutions and to provide the basic data for the development of genetics science program at the undergraduate. Subjects of this study were comprised of twenty-three colleges of nursing in 4-year baccalaureate and thirty colleges in 3-year diploma programs. The results of this study were as follows : 1) 32 colleges offer courses related to genetics. 29 among 32 colleges have that integrated. Three schools have established completely independent courses of genetics. 21 colleges do not have any courses dealing with genetics. 2) The contents of courses related to genetics include: Congenital abnormalities, chromosomal aberrations, congenital metabolic disease, prenatal diagnosis and genetic counseling, genes and chromosomes, immune genetics, blood type and genetics, rule of genetics, variation in gene expression, the map of the human gene, gene linkage genetics, interaction of genes, single inheritance in order and genetic biochemistry. 3) For course credit, 14colleges(48.3%) offered at most 1 credit per course. The grade of student who can take the course, 51.7% were in their second year while 37.9% were in their third year. The majors of nursing faculty who taught the course were nursing(51.7%) and basic nursing science(17.2%). 4) As far as the need of opening the courses related to genetics, 36 colleges(67.0%) have made a 'need', 12 schools(22.6%) state 'dose not need'. 711e reason for need were the following development of bio engineering, increase number of patients who are related to genetics, recognition of the need in clinical nursing. 7 schools(13.2%) agreed to offer independent course in genetics but 39 schools(73.6%) are in disagreement with that. When the school offers the course with other courses, 27 schools(50.0%) are opening basic nursing science and 14 schools(26.4%) are opening nursing as an integrated courses. If the name of course was either genetic nursing(34.0%) or genetics(28.3%), the credits for the course was one or 2 credits. 33 schools(62.3%) students were in the first or second years. 41 schools(84.9%), the majors of the faculty who had taught the course were either basic nursing science(35.8%), nursing(28.3%) or basic medicine(24.5%). The contents of the course should include in that order: Chromosome aberrations, prenatal diagnosis and genetic counseling, congenital metabolic disease, congenital abnormalities, genes and chromosomes, the rules of genetics, immune genetics, interaction of genes, variation in gene expression, etc. The results and discussions of the study indicate that the entire curriculums need to be investigated with respect to contents of education, nursing curriculums and name of courses because of the increasing need of knowledge related to genetics in the clinical practice.

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Evaluation of Effects of Metformin in Primary Ovarian Cancer Cells

  • Patel, Seema;Singh, Neeta;Kumar, Lalit
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권16호
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    • pp.6973-6979
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    • 2015
  • Background: Ovarian cancer is the third most common cause of cancer in Indian women. Despite an initial 70-80% response rate, most patients relapse within 1-2 years and develop chemoresistance. Hence, identification or repositioning of drugs to resensitise ovarian cancer cells to existing chemotherapy is needed. Traditionally immortalized cell lines have been used in research, but these may contain genetic aberrations and chromosomal abnormalities serving as poor indicators of normal cell phenotype and progression of early-stage disease. The use of primary cells, maintained for only short periods of time in vitro, may serve as the best representative for studying in vivo conditions of the tissues from which they are derived. In this study we have attempted to evaluate the effect of metformin (an antidiabetic drug) in primary ovarian cancer cells because of its promising effect in other solid tumours. Materials and Methods: Primary cultures of epithelial ovarian cancer cells established from ascitic fluid of untreated ovarian cancer patients were used. The cells were treated with metformin at doses standardized by MTT assay and its ability to induce apoptosis was studied. The cells were analysed for apoptosis and apoptosis related proteins by flow cytometry and western blotting respectively. Results: Metformin induced apoptosis in ovarian cancer cells, provoking cell cycle arrest in the G0/G1 and S phase. It induced apoptosis in ovarian cancer cells by, down-regulating Bcl-2 and up-regulating Bax expression. Conclusions: Metformin was able to induce apoptosis in primary ovarian cancer cells by modulating the expression of Bcl-2 family proteins. These data are relevant to ongoing translational research efforts exploring the chemotherapeutic potential of metformin.

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

  • 오현숙;김미경;김성미
    • 대한임상검사과학회지
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    • 제39권3호
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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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계대핵치환에 의한 무미 양서류 종간핵치환개체의 발생수행능력 증진에 관한 연구 (Studies on the Improvement of Developmental Capadty of the Nucleocytoplasmic Hybrid by)

  • 이자경;정해문
    • 한국동물학회지
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    • 제32권3호
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    • pp.258-263
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    • 1989
  • 포배단계의 북미산 표범개구리 Rana pipiens의 핵을 북방산개구리 Rana dybowskii의 무핵 수정란에 이식하여 형성되는 nucleocytoplasmic hybrids 개체는 낭배운동을 전후하여 모두 치사한다. 치사조합 개체의 발생수행능력의 증진을 위하여 치사직전의 핵을 취하여 북방산개구리의 무핵 수정란에 계대핵치환 시킨 결과 제 1대 핵치환의 경우와 마찬가지로 낭배기를 전후하여 치사하는 것으로 나타나 발생수행능력의 커다란 증진은 관찰되지 않았다. 그러나 15대까지 계대핵치환이 진행되는 동안 초기낭배 까지의 발생은 일정비율로 진행되므로 영속적인 DNA의 복제와 세포분열은 가능한 것으로 나타났다. 한편 종간핵치환된 개체의 상당수에서 비정상적인 형태를 가진 염색체와 수에 이상이 일어났음이 관찰되었다. 이와 같은 염색체의 이상은 정상 개체로 이식된 조직이 치사되는 점으로 미루어 영구적인 변화로 보이며 이로 인한 비정상적인 유전자의 활동이 개체를 발생의 초기단계에서 치사시키는 것으로 사료된다.

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Frequency of Chromosomal Abnormalities in Pakistani Adults with Acute Lymphoblastic Leukemia

  • Shaikh, Muhammad Shariq;Adil, Salman Naseem;Shaikh, Mohammad Usman;Khurshid, Mohammad
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권21호
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    • pp.9495-9498
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    • 2014
  • Background: The difference in prognosis of adult and childhood acute lymphoblastic leukemia (ALL) can be attributed largely to variation in cytogenetic abnormalities with age groups. Cytogenetic analysis in acute leukemia is now routinely used to assist patient management, particularly in terms of diagnosis, disease monitoring, prognosis and risk stratification. Knowing about cytogenetic profile at the time of diagnosis is important in order to take critical decisions in management of the patients. Aim and Objectives: To determine the frequency of cytogenetic abnormalities in Pakistani adult patients with ALL in order to have insights regarding behavior of the disease. Materials and Methods: A retrospective analysis of all the cases of ALL (${\geq}15$years old) diagnosed at Aga Khan University from January 2006 to June 2014 was performed. Phenotype (B/T lineage) was confirmed in all cases by flow cytometry. Cytogenetic analysis was made for all cases using the trypsin-Giemsa banding technique. Karyotypes were interpreted using the International System for Human Cytogenetic Nomenclature (ISCN) criteria. Results: A total of 166 patients were diagnosed as ALL during the study period, of which 151 samples successfully yielded metaphase chromosomes. The male to female ratio was 3.4:1. The majority (n=120, 72.3%) had a B-cell phenotype. A normal karyotype was present in 51% (n=77) of the cases whereas 49% (n=74) had an abnormal karyotype. Of the abnormal cases, 10% showed Philadelphia chromosome; t(9;22)(q34;q11.2). Other poor prognostic cytogenetic subgroups were t(4;11)(q21;q23), hypodiploidy (35-45 chromosomes) and complex karyotype. Hyperdiploidy (47-57 chromosomes) occurred in 6.6%; all of whom were younger than 30 years. Conclusions: This study showed a relatively low prevalence of Philadelphia chromosome in Pakistani adults with ALL with an increase in frequency with age (p=0.003). The cumulative prevalence of Philadelphianegative poor cytogenetic aberrations in different age groups was not significant (p=0.6).

Noninvasive prenatal test for the pregnancy with Turner syndrome mosaicism 45, X/47, XXX: A case report

  • Kim, Ji Hye;Lee, Gun Ho;Cha, Dong Hyun;Cho, Eun-Hae;Jung, Yong Wook
    • Journal of Genetic Medicine
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    • 제12권2호
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    • pp.118-122
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    • 2015
  • Noninvasive prenatal test (NIPT) is a novel screening method for the diagnosis of fetal chromosomal aneuploidies. NIPT is based on technology that detects cell-free fetal DNA in maternal plasma and analyzes it with massively parallel sequencing technology to determine whether the fetus is at risk of trisomy 21, trisomy 18, trisomy 13 or sex chromosome abnormalities (SCAs). NIPT has been reported to have sensitivity of 99% and a false positive rate of less than 1% for detecting trisomy 21 and trisomy 18. Although extension of the application of NIPT to other SCAs has been attempted, there are concerns in extending NIPT to SCAs because of maternal or fetal mosaicism, undetected maternal SCAs, and multiple pregnancies. Recently, we assessed a pregnancy with the rare Turner syndrome mosaicism 45, X/47, XXX, which was reported as 45, X with NIPT. We present the case here and briefly review the current literatures on NIPT in testing for fetal monosomy X. To the best of our knowledge, this is the first report of the 45, X/47, XXX mosaicism in Korea to be reported as 45, X by NIPT with whole genome sequencing. This case report will provide valuable information for counseling women who want to undergo NIPT.