• Asian Pacific Journal of Cancer Prevention
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• 제16권16호
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• pp.7219-7229
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• 2015

Background: Chromosomal aberrations identified in acute lymphoblastic leukemia (ALL) have an important role in disease diagnosis, prognosis and management. Information on karyotype and associated clinical parameters are essential to physicians for planning cancer control interventions in different geographical regions. Materials and Methods: In this study, we present the overall frequency and distribution patterns of chromosomal aberrations in both children and adult de novo B lineage ALL Indian patients using conventional cytogenetics, interphase FISH and multiplex RT-PCR. Results: Among the 215 subjects, cytogenetic results were achieved in 172 (80%) patients; normal karyotype represented 37.2% and abnormal 62.8% with a distribution as follows: 15.3% hypodiploidy; 10.3% hyperdiploidy; 15.8% t(9;22); 9.8% t(1;19); 3.7% t(12;21); 2.8% t(4;11); 2.8% complex karyotypes. Apart from these, we observed several novel, rare and common chromosomal rearrangements. Also, FISH studies using LSI extra-signal dual-color probes revealed additional structural or numerical changes. Conclusions: These results demonstrate cytogenetic heterogeneity of ALL and confirm that the incidence of chromosomal abnormalities varies considerably. To the best of our knowledge, this is one of the largest reported series of cytogenetic investigations in Indian B-lineage ALL cases. In addition, ongoing cytogenetic studies are warranted in larger groups of B-lineage ALL cases to identify newly acquired chromosomal abnormalities that may contribute to disease diagnosis and management.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제2권1호
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• pp.66-75
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• 1991

자폐장애의 유전적 요소를 조사하기 위하여 DSM-III-R의 진단기준으로 자폐장애에 부합한 38명의 아동에서 염색체 검사를 실시하였다. 본 연구의 대상은 남아 28명과 여아 10명이었으며, 평균 연령은 $108.8{\pm}28.5개월(70{\sim}156개월)$이었다. 염색체 핵형검사 결과 모든 대상 아동에서 46XX 혹은 46XY로서 염색체 수에는 이상이 없었다. Fragile X는 한 명에서도 발견되지 않았다. Fragile X 이외의 염색체 구조의 이상은 14명(36.8%)에서 발견되었으며, 그 양상은 breakage 11명, gap 2명, breakage와 gap이 공존하는 경우 1명이었다. Denver의 염색체 분류에 의한 이상 염색체 군은 A군 4명, C군 3명, 두 군 이상의 이상은 A군과 B군 동시에 발견된 경우가 1명, A군과 C군 동시 발견이 3명, A군과 E군 동시 발견이 1명, C군과 E군 동시 발견이 1명, A군 B군과 C군 동시 발견이 1명이었다. 염색체 구조에 이상이 있는 집단과 이상이 없는 집단을 DSM-III-R에 의한 자폐장애 증상 항목별로 비교하여 본 바, 모든 증상의 빈도는 양 집단간에 통계적으로 유의한 차이가 없었다.

• Journal of Genetic Medicine
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• 제7권2호
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• pp.111-118
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• 2010

염색체 microarray 검사는 유전체 전체를 한번에 검색하여 초현미경적인 염색체 이상을 매우 정밀하고 정확하게 검출할 수 있다. 외국에서는 현재 자주 활용되는 임상 진단 검사로 자리잡았고, 염색체 검사 또는 표적 부위를 검출하는 FISH 검사나 PCR 기반의 분자유전학적 방법을 대체하고 있다. 최근 발표된 consensus 들은 염색체 microarray 검사를 비특이적인 다발성 기형, 발달지연 또는 정신지체, 자폐증상질환의 환자에서는 염색체 검사보다 먼저 시행할 수 있는 검사로 제안하였다. 염색체 microarray 검사는 핵형 분석에서 검출된 염색체 불균형을 검증하기 위해 염색체 검사에 보조적으로 활용할 수 있고, 염색체 이상에 대한 보다 정확하고 종합적인 분석이 가능하다. 그러나 염색체 microarray 검사는 균형재배열의 염색체 이상과 low-level 모자이시즘을 검출하기 어렵고, 임상적 중요성이 불명확한 CNV에 대한 해석과 검사비용이 고가라는 한계점이 있다. 이러한 이유로 인해 현재로서는 염색체 microarray 검사가 산전 진단 목적으로는 고식적인 염색체 검사를 대신할 수는 없다는 의견이다. 임상검사실에서 염색체 microarray 검사 시행 시, 유전학적 및 세포유전학적 지식과 경험이 결과 분석과 해석 과정에서 요구되며, 적절한 검증 과정 단계와 유전상담이 동반되어야 한다.

• Journal of Genetic Medicine
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• 제16권1호
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• pp.10-14
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• 2019

Purpose: The aim of this study was to investigate the clinicopathological features of premature ovarian insufficiency (POI) associated with chromosomal abnormalities. Materials and Methods: This was a retrospective study of POI patients with chromosomal abnormalities diagnosed between January 2009 and December 2017. The definition of POI is based on hypergonadotropinism of 40 or greater in follicle stimulating hormone (FSH) measurements at age 40 years or less. FSH was measured twice at least 4 weeks apart. Karyotyping using peripheral blood for chromosomal testing was conducted in all patients diagnosed with POI. We analyzed the clinical characteristics and genetic causes of patients who were diagnosed with POI. Results: Forty patients were diagnosed with POI including 9 (22.5%) with identified chromosomal abnormalities. The mean age at diagnosis was $23.1{\pm}7.8years$ (ranging between 14 and 39). Three patients did not experience menarche. The presenting complaints were short stature in one case, one case of amenorrhea with ambiguous external genitals, one case of infertility, and six related to menstruation such as oligomenorrhea or irregular rhythm. Turner syndrome was diagnosed in four cases, Xq deletion in one case, trisomy X in two cases, and 46,XY disorder of sexual development in two other patients. Conclusion: Patients diagnosed with POI carrying the same type of chromosomal abnormality manifest different phenotypes. The management protocol also needs to be changed depending on the diagnosis. A karyotype is indicated for accurate diagnosis and proper management of POI in patients, with or without stigmata of chromosomal abnormalities.

• Journal of Gastric Cancer
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• 제4권2호
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• pp.109-120
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• 2004

Purpose: Individual gastric cancers demonstrate complicated genetic alterations. The PCR-based analysis of polymorphic microsatellite sequences on cancer-related chromosomes has been used to detect chromosomal loss and microsatellite instability. For the purpose of preoperative usage, we analyzed the correspondance rate of the microsatellite genotype between endoscopic biopsy and surgical specimens. Materials and Methods: Seventy-three pairs of biopsy and surgical specimens were examined for loss of heterozygosity and microsatellite instability by using 40 microsatellite markers on eight chromosomes. Microsatellite alterations in tumor DNAs were classified into a high-risk group (baselinelevel loss of heterozygosity: 1 chromosomal loss in diffuse type and high-level loss of heterozygosity: 4 or more chromosomal losses) and a low-risk group (microsatellite instability and low-level loss of heterozygosity: 2 or 3 chromosomal losses in diffuse type or $1\∼3$ chromosomal losses in intestinal type) based on the extent of chromosomal loss and microsatellite instability. Results: The chromosomal losses of the biopsy and the surgical specimens were found to be different in 21 of the 73 cases, 19 cases of which were categorized into a genotype group of similar extent. In 100 surgical specimens, the high-risk genotype group showed a high incidence of nodal involvement (19 of 23 cases: $\leq$5 cm; 23 of 24 cases: >5 cm) irrespective of tumor size while the incidence of nodal involvement for the low-risk genotype group depended on tumor size (5 of 26 cases: $\leq$5 cm; 18 of 27 cases: >5 cm). Extraserosal invasion was more frequent in large-sized tumor in both the high-risk genotype group ($\leq$5 cm: 12 of 23 cases; >5 cm: 23 of 24 cases) and the low-risk genotype group ($\leq$5 cm: 7 of 26 cases; >5 cm: 16 of 27 cases). The preoperative prediction of tumor invasion and nodal involvement based on tumor size and genotype corresponded closely to the pathologic tumor stage (ROC area >0.7). Conclusion: An endoscopic biopsy specimen of gastric cancer can be used to make a preoperative genetic diagnosis that accurately reflect the genotype of the corresponding surgical specimen.

• Asian-Australasian Journal of Animal Sciences
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• 제9권4호
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• pp.449-454
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• 1996

Cytogenetic effects of malathion and parathion, the organophosphorus pesticides were studied on goat lymphocytes in culture. The mitotic indices (% of blast cells + cells at metaphase) of goat lymphocytes showed corresponding decrease with the increase in dose of pesticides. Malathion had significant effect only at $150{\mu}g/ml$ or higher dosages while, parathion caused antimitotic effects even at the lowest dose ($5{\mu}g/ml$) tested. The clastogenic effects of malathion were significant ($p{\leq}0.05$) at $100{\mu}g/ml$. In higher doses, the effects were highly significant ($p{\leq}0.01$). The frequency of metaphase plates with chromosomal abnormalities were highest (22.0%) at $200{\mu}g/ml$. The incidences of chromosomal abnormalities were significant ($p{\leq}0.05$) in parathion treated series even at $5{\mu}g/ml$ dose level. At $10{\mu}g/ml$ or higher dose levels the difference between treatment groups and controls were more pronounced ($p{\leq}0.01$). Various types of chromosomal abnormalities were encountered in goat lymphocytes treated by malathion and parathion. However, the incidence of gaps, breaks, acentric fragments, dicentric chromosomes were higher than other types of structural and numerical abnormalities.

• 한국미생물·생명공학회지
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• 제20권3호
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• pp.280-288
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• 1992

Serratia marcescens ATCC 21074 균주가 세포밖으로 분비하는 metalloprotease 유전자를 대장균으로 클로닝하고 그 발현을 살펴보았다 Serratia marcescens ATCC 21074 균주의 염색체 DNA를 제한효소 HindIII로 절단하고 아가로스 전기영동 후 32P로 표지된 합성 oligonucleotide를 사용하여 southern hybridization한 결과 4.0Kb의 DNA 절편에 metalloprotease가 존재함을 알 수 있었다. 4.0Kb 염색체 DNA 절ㅊ편을 분리하여 pUC19에 연결한 후 대장균으로 transformation하였다.

• 한국산업보건학회지
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• 제24권2호
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• pp.160-168
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• 2014

Objectives: Chemical hazard evaluations are important for workers' health and working environments. Allyl chloride (CAS No. 107-05-1) is used in many industries, leading to concerns about the possibility of threats to the health of workers. Since only insufficient or controversial information is available about potential related hazards, an in vitro mammalian chromosomal aberration (CA) assay was conducted in order to gain additional information concerning any such hazards. Moreover, toxicological information from this study could be applied for workers' rights to know, and to prepare or update the Materials Safety Data Sheet (MSDS) for a number of industries. Methods and Results: The assay was performed using the Chinese hamster lung fibroblast cell (ATCC, CRL-1935), by the direct method (-S9) and by the metabolic activated method (+S9 mix). Using the direct method, the seven dosages in the 48-hour treatment group did not show that the frequency of CA is proportionate to the dosage. The frequency of CA is not proportionate to the dosage addition for a six-hour treatment using the metabolic activated method. Conclusions: From these findings, it was decided that this chemical does not induce chromosomal aberrations under the tested conditions.

• 한국과학교육학회지
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• 제13권2호
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• pp.219-229
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• 1993

The purpose of this study is to investigate college science students' and science teachers' understanding of chromosomal behavior in the context of cell division. The research problems were as follows: 1. What is the level of college science students' understandings of chromosomal behaviors? 2. What is the level of science teachers' understandings of chromosomal behaviors? 3. What is the level of understanding by grade and major area? The sample consisted of 28 sophomore, 17 junior and 23 senior biology students; and 23 middle school science teachers and 14 high school biology teachers. The instrument of the study was a short answer required paper and pencil test. The results of the study were as follows: 1) About 15 percent of the sample could not count the number of chromosome in a cell in appropriate. 2) Seventy percent of the students, and 80 percent of the teachers identified homologous chromosomes as ones with the similar shape and size, and 30 percent of the whole sample could not pair two homologous chromosomes. 3) About 70 percent of the students and 30 percent of the teachers could not mark corresponding allele on chromosome. 4) Biology major students showed higher understanding of overall chromosomal behaviors than non Biology students. Based upon the results, some implications were made. The major one was a development of a teaching model in which students can improve the ability to connect chromosome theory to mendelian genetics.

• 한국가금학회지
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• 제17권4호
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• pp.275-280
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• 1990

Constitutive heterochromatin의 염색체 다형현상에 대해 사람을 비롯하여 돼지, 생쥐, 말, 닭 등에서 보고된 바 있다. 본 연구에서는 일본산메추리의 C－band 다형체 뿐만 아니라 염색체의 형태적 다형체를 발견하여 이의 다형현상을 밝혔다. 일반적인 염색체 분석방법 및 C－banding 방법으로서 밝힌 3가지 염색체 다형체는 4번 염색체 ＋/－ 동형체, ＋/－ 이형체 및 －/－ 동형체이다. 이와 같은 다형체들은 무작위 집단 내에서 일반적이고 지속적으로 나타나며 Mendel 법칙에 따른 유전양상을 보인다. 따라서 본 연구에서 밝힌 염색체 다형체들은 여러 세포유전학적 연구에 표식인자(chromosome marker)로서 유용하게 이용되어질 수 있을 것으로 생각된다.