• Clinical and Experimental Pediatrics
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• 제48권12호
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• pp.1317-1323
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• 2005

목 적 : 성염색체이상증후군은 사춘기 이후 이차 성징의 결여로 그 증상이 뚜렷해지므로 사춘기 이전의 진단은 쉽지 않다. 본 연구는 성염색체이상증후군의 빈도, 진단시 연령, 그리고 임상적 특징을 조사하여 그 의의를 알아보고자 한다. 방 법 : 1981년 2월부터 2001년 8월까지 20년 동안 경북대학교병원 소아과 염색체검사실에 의뢰된 염색체검사 중 성염색체 이상증후군으로 진단된 115례 환자의 임상적 특징, 진단시 연령 그리고 핵형 분석을 후향적인 방법으로 조사하였다. 결 과 : 성염색체이상증후군의 종류와 빈도는 Klinefelter 증후군은 52%, Turner 증후군은 42%, XXX 증후군은 3%, 혼합 성선이형성은 3%였다. Klinefelter 증후군은 47,XXY가 97%, mosaicism이 3%였고, Turner 증후군은 45,X가 67%, mosaicism이 23%, X 염색체의 구조적 이상은 10%였다. XXX 증후군은 47,XXX가 67%, mosaicism은 33%였고, 혼합 성선이형성은 모두 45,X/46,XY였다. 성염색체이상증후군의 81%가 사춘기 이후에 진단되었다. 신생아기에 Klinefelter 증후군과 Turner 증후군으로 진단받은 경우는 표현형이 정상이거나 경한 선천성기형만을 보였다. Turner 증후군과 Klinefelter 증후군의 mosaicism이나 구조적 이상군에서 전형적인 45,X나 47,XXY보다 신체상 증상 발현이 경미할 것으로 생각되었으나 본 연구에서는 통계학적으로 유의한 차이는 보이지 않았다. 결 론 : 성염색체이상증후군은 사춘기 이전에는 그 증상이 뚜렷하지 않으므로 환아에 대한 주의 깊은 관찰과 관심으로 조기에 진단하여 정상적인 정신성적발달과 성장발육 및 성생활을 유지하도록 부모와 환아의 질환에 대한 인지도를 높여야 할 것으로 사료된다. 특히 핵형 분석시 Turner 증후군은 X염색체의 다양한 구조 이상 또는 mosaicism의 빈도가 높기 때문에 핵형 분석시 이를 염두에 두어야 한다.

• Asian Pacific Journal of Cancer Prevention
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• 제13권11호
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• pp.5391-5397
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• 2012

Background: Neuroblastoma (NB), like most human cancers, is characterized by genomic instability, manifested at the chromosomal level as allelic gain, loss or rearrangement. Genetics methods, as well as conventional and molecular cytogenetics may provide valuable clues for the identification of target loci and successful search for major genes in neuroblastoma. We aimed to investigate AURKA and MYCN gene rearrangements and the chromosomal aberrations (CAs) to determine the prognosis of neuroblastoma. Methods: We performed cytogenetic analysis by G-banding in 25 cases [11 girls (44%) and 14 boys (66%)] and in 25 controls. Fluorescence in situ hybridization (FISH) with AURKA and MYCN gene probes was also used on interphase nuclei to screen for alterations. Results: Some 18.4% of patient cells exhibited CAs., with a significant difference between patient and control groups in the frequencies (P<0.0001). Some 72% of the cells had structural aberrations, and only 28% had numerical chnages in patients. Structural aberrations consisted of deletions, translocations, breaks and fragility in various chromosomes, 84% and 52% of the patients having deletions and translocations, respectively. Among these expressed CAs, there was a higher frequency at 1q21, 1q32, 2q21, 2q31, 2p24, 4q31, 9q11, 9q22, 13q14, 14q11.2, 14q24, and 15q22 in patients. 32% of the patients had chromosome breaks, most frequently in chromosomes 1, 2, 3, 4, 5, 8, 9, 11, 12, 19 and X. The number of cells with breaks and the genomic damage frequencies were higher in patients (p<0.001). Aneuploidies in chromosomes X, 22, 3, 17 and 18 were most frequently observed. Numerical chromosome abnormalities were distinctive in 10.7% of sex chromosomes. Fragile sites were observed in 16% of our patients. Conclusion: Our data confirmed that there is a close correlation between amplification of the two genes, amplification of MYCN possibly contributing significantly to the oncogenic properties of AURKA. The high frequencies of chromosomal aberrations and amplifications of AURKA and MYCN genes indicate prognostic value in children with neuroblastomas and may point to contributing factors in their development.

• 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.

• Journal of Genetic Medicine
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• 제13권2호
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• pp.95-98
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• 2016

We report the prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus. Cytogenetic analysis of parental chromosomes revealed that the mother had a normal 46,XX karyotype, whereas the father exhibited a 46,XY,der(15)t(Y;15) karyotype. We performed cytogenetic analysis of the father's family as a result of the father and confirmed the same karyotype in his mother and brother. Fluorescence in situ hybridization and quantitative fluorescent-polymerase chain reaction analysis identified the breakpoint and demonstrated the absence of the SRY gene in female members. Thus, the proband inherited this translocation from the father and grandmother. This makes the prediction of the fetal phenotype possible through assessing the grandmother. Therefore, we suggest that conventional cytogenetic and molecular cytogenetic methods, in combination with family history, provide informative results for prenatal diagnosis and prenatal genetic counseling.

• 한국동물학회지
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• 제12권3호
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• pp.85-93
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• 1969

5-AU에 의해 同時分裂促進된 사람의 胎兒 賢臟細胞를 材料로 steroid 에 의한 染色體 異常率 時間經過에 따른 染色體異常率, DNA 合成樣相을 調査한 結果는 다음과 같다. 1. 5-AU 處理區에서 細胞當 染色體 異常率은 0.131로 對照區에 比해 3倍 이상이나 된다. 또한 5-AU + progesterone 과 5-AU + testosterone 處理區에서는 細胞當 染色體異常率이 각각 0.340과 0.452이다. 2. 5-AU 處理區에서 異常染色體를 지니는 細胞는 0.8%로 時間變化에 무관하게 전체 其間에 걸쳐 존재한다. 5-AU + progesterone과 5-AU + testosterone 處理區에서는 2.2%, 4.3%의 異常染色體數가 觀察되고, 時間이 지남에 따라 增加한다. 또한 染色體 異常率은 5-AU + progesterone 處理區에서는 12時間과 18時間에 가장 높았고, 5-AU + testosterone 處理區에서는 時間變化에 따라 감소하고 5-AU 處理區에서는 유의한 차이가 없다. 3. 5-AU 는 標識分裂像의 出現頻度와 標識强度를 增加시키는데, 이는 5-AU에 의해 S-stage의 細胞가 축적되는 결과로 생각된다. 그러나 steroid는 標識分裂像의 出現頻度를 감소시키고 DNA 合成時期를 지연시키고 있다. 또한 性染色體의 DNA 合成樣相이 細胞週期의 각 段階에 따라 다르며, 이는 5-AU와 steroid의 二重處理로 DNA 合成時期를 不規則하게 만든 때문이다.

• Asian-Australasian Journal of Animal Sciences
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• 제21권8호
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• pp.1103-1108
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• 2008

An investigation to determine frequency and distribution of folate sensitive chromosomal fragile sites was carried out in a Pakistani breed of Lohi sheep to uncover fragile site phenomena. The means and standard errors of aberrant cell count (AC) and Number of aberrations (NoA) in Lohi sheep were $0.56{\pm}0.15$ and $0.59{\pm}0.16$ in the control cultures. FUdR treated cells showed significantly higher (p<0.001) AC and NoA means ($2.18{\pm}0.33$ and $2.65{\pm}0.50$). The sex comparison for the frequency of expression indicated that males had significantly higher number of aberrant cells and total number of aberrations in FUdR cultures than the female group in Lohi sheep. The comparison of control cultures was however, not significantly different between the two groups. The regression analysis of FUdR-induced chromosomal fragility data analysis of the fragility data predicted very low ${\beta}$ of 0.325 and 0.412 for AC and NoA respectively. Lohi chromosomes expressed lesions in only 7 and 24 bands in the control and FUdR cultures respectively. The total number of significantly fragile bands in the Lohi genome was only 4. The X-chromosome of the Lohi sheep was highly stable at $5{\mu}g/ml$ FUdR with no fragile sites. The sex comparison for the distribution of fragile sites across the Lohi genome did not reveal any noticeable differences.

• Asian Pacific Journal of Cancer Prevention
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• 제14권12호
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• pp.7555-7560
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• 2013

Background: Beedi rollers are exposed to unburnt tobacco dust through cutaneous and pharyngeal route and it is extremely harmful to the body since it is carcinogenic in nature and can cause cancer during long exposure. This indicates that occupational exposure to tobacco imposes considerable genotoxicity among beedi workers. Materials and Methods: In the present study, 27 beedi workers and age and sex matched controls were enrolled for clinical, cytogenetics and molecular analysis. Clinical features were recorded. The workers were in the age group of 28-67 years and were workers exposure from 8-60 years. Blood samples were collected from workers and control subjects and lymphocyte cultures were carried out by using standard technique, slides were prepared and 50 metaphases were scored for each sample to find the chromosomal abnormalities. For molecular analysis the genomic DNA was extracted from peripheral blood, to screen the variations in gene, the exon 1 of CYP1A1 gene was amplified by polymerase chain reaction (PCR) and then screened with Single Strand Conformation Polymorphism (SSCP) analysis. Results: A statistically significant increase was observed in the frequencies of chromosomal aberrations in exposed groups when compared to the respective controls and variations observed in Exon 1 of CYP1A1(Cytochrome P450, family 1, subfamily A, polypeptide 1) gene. Conclusions: This study shows that, the toxicants present in the beedi that enter into human body causes disturbance to normal state and behavior of the chromosomes which results in reshuffling of hereditary material causing chromosomal aberrations and genomic variations.

• 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.

• 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.

• 한국식품위생안전성학회지
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• 제16권2호
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• pp.145-151
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• 2001

유아 식품중의 병마개 등에 약 30%까지 함유되어 합성수지 및 고무의 가소제로 많이 사용되고 있으나 최근 유럽등지에서 식품으로의 유리가 보고되어 안전성에 대한 재평가가 요구되어지고 있는 에폭시화 대두유 (Epoxidized soy bean oil, ESBO)의 유전독성을 평가하기 위해서 박테리아를 이용한 복귀돌연변이시험과 포유류 배양세포를 대상으로 검색하는 체외 염색체이상시험, 설치류의 조혈세포를 이용한 체내 소핵시험을 수행하였다. Salmonella typhimurium TA98, TA100, TA1535, TA1537, TA102균주를 이용한 복귀돌연변이 시험결과 직접법 및 대사활성화법에서 돌연변이 유발성을 가지지 않는 음성의 결과를 나타내었으며, chinese hamster lung cell을 이용한 염색체이상시험을 실시한 결과, 직접법 및 대사활성화법에서 염색체이상 유발작용을 보이지 않는 음성의 결과를 나타내었다. 또한 성별, 연령별에 따라서 마우스 골수세포를 이용한 소핵시험에서 에폭시화 대두유는 미성숙 적혈구중 유의성 있는 소핵 유발은 관찰되지 않았다. 이상의 결과를 종합하여, 본 시험조건 중 에폭시화 대두유는 in vitro 시험인 Salmonella 균주를 이용한 복귀돌연변이시험과 포유동물 배양세포를 이용한 염색체이상시험 및 in vivo 시험인 마우스를 이용한 소핵시험에서 유전독성을 유발하지 않는 것으로 판단된다.