• Reproductive and Developmental Biology
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• 제30권4호
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• pp.263-270
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• 2006

The Chinese Hamster Ovarian cells CHO-K1 are one of the most extensively used cells for the evaluation of gene expression and toxicology. However, these cells are frequently used for biomedical research without consideration of their cytogenetic characteristics. Therefore, we carried out to investigate the karyologic profiles, the frequency and type of chromosome aberration, and the distribution of telomeric DNA on chromosomes of the CHO-K1 cells. The GTG banding and fluorescence in situ hybridization on CHO-K1 cells were performed to characterize the karyotype and the distribution of telomeric DNA The present study revealed that the chromosome modal number of CHO-K1 cells was 2n=20; eight chromosomes appeared to be identical with those of the normal Chinese hamster, whereas the remaining 12 chromosomes were shown to be translocated, deleted, inversed, or rearranged from Chinese hamster chromosomes. The telomeric DNA on CHO-K1 chromosomes was intensively distributed at the centromeres rather than the ends of chromosomes. In addition, three chromosomes had interstitial telomeres and one marker chromosome entirely consisted of telomeric DNAs. The frequency and type of chromosome aberrations in CHO-K1 cells were examined. Of the 822 metaphase spreads, 68 (8.3%) cells resulted in chromosome aberrations of which the chromosome breakage was the most frequently occurred.

• Clinical and Experimental Reproductive Medicine
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• 제26권1호
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• pp.43-54
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• 1999

Klinefelter's syndrome is a very important disease in gynecologic endocrinologic fields, because the patients with this karyotype complain of infertility, azospermia and ambiguous genitalia. Y chromosome is an important chromosome which determine genetic sex and the structure of gonad and genitalia. In this study, to elucidate the cytogenetic characteristics and clinical features of Klinefelter's syndrome and Y chromosomal abnormalities in Korea, we studied 303 cases of Klinefelter's syndrome and 11 cases of Y chromosomal abnormalities which were diagnosed by chromosomal analysis at the Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University for 12 years from January 1984 to December 1996. The results of this study showed as follows: 1. In a total of 9275 cases, there were 303 cases (3.3%) of Klinefelter's syndromes, 11 cases (0.1%) of Y chromosomal abnormalities. 2. In 102 cases of patients showed typical clinical features of Klinefelter's syndrome, 101 cases (99%) of them were diagnosed to Klinefelter's syndrome in karyotyping. 3. In 303 cases of Klinefelter's syndrome, there were 277 cases (91.4%) of 47,XXY complement, 16 cases (5.3%) of mosaicism, 2 cases (0.7%) of 48,XXXY, 5 cases (1.7%) of 48,XXYY and 3 cases (1.0%) of 49,XXXXY. 4. In 303 cases of Klinefelter's syndrome, 284 cases (93.7%) of them were diagnosed after puberty and only 19 cases (6.3%) of them were diagnosed before puberty. 5. In 303 cases of Klinefelter's syndrome, there were 146 cases (48.2%) of patients with infertility-associated chief complaints, 101 cases (33.3%) of patients with typical clinical features of Klinefelter's syndrome, 22 cases (7.3%) of patients with ambiguous genitalia. 6. In patients with Klinefelter's syndrome, 48,XXYY and 49,XXXXY had serious symptoms such as mental retardation, developmental delay, Down syndrome-like features, congenital anomalies, but 48,XXYY and other mosaicisms had infertility-associated symptoms or ambiguous genitalia. 7. The 8 cases of polysomy Y (XYY complement) showed several serious symptoms such as Down syndrome-like features, mental retardation, fragile X syndrome-like feature, congenital anomalies, ambiguous genitalia which could be detected before puberty.

• 한국양식학회:학술대회논문집
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• 한국양식학회 2004년도 수산관련학회 공동학술대회 발표요지집
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• pp.278-279
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• 2004

• Asian Pacific Journal of Cancer Prevention
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• 제16권9호
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• pp.3785-3792
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• 2015

The CCAAT/enhancer-binding protein-alpha (CEBPA) is a transcriptional factor that plays a crucial role in the control of proliferation and differentiation of myeloid precursors. This gene was recognized as the target of genetic alterations and were associated with clinical complexity among AML. We here analyze the frequency and types of CEBPA mutations and polymorphisms in a de novo AML patients from South India and tried to find out associations of these variations with different clinical parameters and the prognostic significance in AML. Study was carried out in 248 de novo AML patients, cytogenetic analysis was performed from the bone marrow samples and was karyotyped. PCR-SSCP analysis and sequencing was performed for the detection of CEBPA gene variations. All the statistical analysis was performed using SPSS 17 (statistical package for social sciences) software. Pearson Chi-square test, Mann-Whitney U test, Kaplan-Meier survival analysis and log rank tests were performed. CEBPA mutations were detected in 18% and CEBPA polymorphisms were detected in 18.9% of AML cases studied. Most of the mutations occured at the C terminal region. Polymorphisms were detected in both N and C terminal region. with most common being, c.584_589dup ACCCGC and c.690G>T. A significant association was not observed for the mutation and polymorphism with respect to clinical and laboratory parameters. Survival advantage was observed for the mutated cases compared to non mutated cases, especially for the normal karyotype groups. Polymorphisms has no effect on the survival pattern of AML patients. CEBPA mutation and polymorphisms were observed with similar frequency and was identified in all the FAB subtypes as well as in cytogenetic risk groups in our study population, but CEBPA mutations alone confer a prognostic value for NK AML patients.

• 대한두경부종양학회지
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• 제24권1호
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• pp.33-42
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• 2008

Head and neck squamous cell carcinoma(HNSCC) is notorious for its poor outcome and increasing incidence. But, the studies of cytogenetic analysis in HNSCC are relatively rare, because of difficulties in culturing solid tumor cells and complexity in chromosomal DNA abberations associated with the lesions. The purpose of this study is to evaluate the location of chromosomal aberrations in Korean HNSCC cell lines (SNU-1041, 1066, and 1076) with comparative genomic hybridization(CGH) and array based CGH(array-CGH). Chromosomal gains of 3q23-q27, 5p13-p15.3, 7p21-pter, 8q11.2-q12, 8q21.1-qter, 9q22-q34, 16q22-q24, and 20q11.2-qter, as well as chromosomal losses on 3p10-p14 were found in all 3 SNU cell lines. Losses on 3p15- p23, 4q22-q27, 4q31.3-qter, 6q14-q15, 7q31-q34, 8p12-pter, 18q21-q23, and 21q11.2-q12 were observed in 2 of 3 cell lines. In array-CGH, many genes were altered including gains of PIK3CA, MYC, EVI1, MAD1L1 genes and losses of SERPIN genes. These aberrations of gene and chromosome coincide with other results of study, generally. These data about the patterns of chromosomal aberrations could be a basic step for understanding more detailed genetic events in the carcinogenesis and also provide information for diagosis and treatment in HNSCC.

• Clinical and Experimental Reproductive Medicine
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• 제32권2호
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• pp.113-119
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• 2005

Objective: The purposes of this study were to investigate the types and the incidences of chromosomal abnormalities, and to provide an explanation for the genetic causations of recurrent spontaneous abortions in Korean population. Methods: Cytogenetic studies were carried out in 535 couples with at least two spontaneous first trimester abortions from January 1981 to December 2003. For karyotype analysis, we used modified Moorhead method by Giemsa staining and Giemsa-Trypsin-Giemsa banding Results: The overall incidence of chromosome abnormality was 32 out of 535 cases (5.98%). There were 25 cases (4.67%) of translocation and 7 cases (1.31%) of inversion. In translocation, 5 cases (0.93%) of Robertsonian translocation and 20 cases (3.74%) of reciprocal translocation were observed. In inversion, 6 cases (1.12%) of inversion of chromosome 9 and one case (0.19%) of inversion of chromosome 18 were found. Conclusion: In this study, overall chromosomal abnormality rate in couples with recurrent spontaneous abortions is much higher than that in the general population. So, chromosomal analysis should be offered for the prognostic information in genetic counseling such as prenatal diagnosis in couples with repetitive reproductive failure.

• 한국양식학회지
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• 제10권1호
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• pp.39-47
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• 1997

무지개송어, Oncorhynchus mykiss 와 산천어, O. masou 간 잡종 및 잡종 3배체가 유도되었다. 잡종 3배체의 3배체 유도율은 92%로 유도된 잡종 3배체의 초기 생존율은 잡종에 비해 높게 나타났다. 잡종의 염색체수는 2n=63 이었으며 잡종 3배체의 염색체수는 3n=93으로 나타났다. 잡종은 적혈구 세포 및 핵 크기에서 잡종유도시 사용된 무지개송어, 산천어의 적혈구 세포 및 핵 크기의 중간치를 나타냈으며 잡종 3배체는 잡종에 비해 배수화에 기인되어 큰 적혈구 세포 및 핵 크기를 나타내었다. 이러한 배수화는 인형성부위 수에서도 나타나 잡종은 1개 혹은 2개의 인형성부위를 보인 반면 잡종 3배체는 1개, 2개 혹은 3개의 인형성부위를 나타내었다.

• BLOOD RESEARCH
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• 제53권4호
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• pp.276-280
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• 2018

Background Chronic lymphocytic leukemia (CLL) exhibits profound heterogeneity in its clinical course. Its clinicohematological and cytogenetic features play a significant role in determining the clinical course and in predicting the treatment response and prognosis. In this context, 17p deletion is known to predict a poor prognosis, as these cases are refractory to conventional therapy. This study aimed to evaluate the clinicohematological characteristics, outcomes, and prognostic factors among CLL patients with and without del 17p in Pakistan. Methods This prospective observational study was conducted at the Department of Haematology, Armed Forces Institute of Pathology (Rawalpindi, Pakistan) between January 2013 and December 2017. Patients were diagnosed based on the International Workshop on Chronic Lymphocytic Leukaemia IWCLL criteria, their clinicohematological parameters were recorded, and cytogenetic analyses were performed. The time from diagnosis to treatment and the 2-year overall survival rate were also evaluated. Results We evaluated 130 CLL cases, including 24 patients (18.5%) with del 17p, who included 18 men (75%) and 6 women (25%). The median age was 68 years. Binet stage C was detected at the presentation in 16 patients (67%). Treatment was administered to 14 patients (70%) at a median interval of 11 months (range, 0-28 mo) after diagnosis. The overall response rate was 64.3%, the median event-free survival was 9 months (range, 1-23 mo), and the 2-year overall survival rate was 65%. Conclusion Del 17p is relatively common in Pakistan, and patients harboring this deletion had poor treatment response and survival outcomes.

• 한국어류학회지
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• 제24권3호
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• pp.151-159
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• 2012

정교배체인 각시붕어, Rhodeus uyekii (♀)${\times}$떡납줄갱이, R. notatus (♂) 잡종, 그리고 상반교배체인 떡납줄갱이 (♀)${\times}$각시붕어(♂) 잡종을 대상으로 혈액도말을 통한 적혈구 크기, flowcytometry를 통한 세포유전학적인 형질 및 truss dimension과 classical dimension에 의한 외부 계측형질에서의 특성을 부모종간의 차이를 비교하였다. 각시붕어와 떡납줄갱이의 정교배체 및 상반교배체의 계측형질은 일반적으로 이들 유도시 사용된 모계와 부계 종의 중간을 보였다. 정교배체는 14개의 계측형질이 부계의 형질과 유사하였으며 7개의 계측형질이 모계의 형질과 유사하였다. 상반교배체의 경우, 13개의 계측형질이 부계의 형질을, 5개의 계측형질이 모계의 형질과 유사하였다. 정교배체와 상반교배체의 체색소 분포는 중간을 보이나 양친 종을 닮게 나타났다(P<0.05). 적혈구 크기와 DNA 함량은 정교배체와 상반교배체 모두 모계의 적혈구 크기 및 DNA 함량을 따르는 경향이 나타났다(P<0.05). 본 연구에서 파악된 각시붕어와 떡납줄갱이의 잡종 계측형질 및 세포유전학적인 형질은 납자루아과의 관상어 개발시 종간 구별에 유용할 것이다.

• Asian Pacific Journal of Cancer Prevention
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• 제16권16호
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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.