• Journal of Radiation Protection and Research
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• 제25권4호
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• pp.223-232
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• 2000

단세포전기영동법은 저선량 방사선에 의한 DNA손상을 민감하게 측정할 수 있는 방법으로 그 활용성이 증대되고 있다. 또한 각 염색체에 특이한 DNA probe를 이용하는 FISH기법은 염색체의 구조적 변화를 측정하는 매우 효과적인 방법으로서 그 유용성이 증대되고 있는 추세이다. 본 연구에서는 저선량 방사선의 측정을 위한 생물학적 선량계로서 FISH 기법과 단세포전기영동법의 활용가능성을 조사하고자 하였다. 5, 10, 30, 및 50 cGy의 저선량 방사선 조사에 의한 염색체이상빈도는 상호전좌의 경우 1, 2, 4번 염색체가 전체 genome상에서 차지하는 비율을 감안하여, 전체 세포수로 환산했을 때 cell equivalent당 0.0375, 0.0407, 0.0727 및 0.0814로 나타났으며, 이동원염색체의 경우 0.0125, 0.0174, 0.02291, 및 0.0407로 나타나 선량 증가에 따라 증가하는 것을 알 수 있었다. 또한 $5{\sim}50cGy$의 저선량 방사선 조사 후 단세포전기영동법을 통해 DNA 상해정도를 살펴본 결과 선량이 증가할수록 DNA 상해가 증가하는 결과를 얻었다. 따라서 FISH 기법은 저선량 방사선 피폭시 염색체이상을 보다 정확하고 쉽게 관찰할 수 있으며, 단세포전기영동법은 DNA 손상을 민감하게 감지할 수 있어 저선략 방사선 피폭 시 유용한 생물학적 선량계로서 활용될 수 있을 것으로 기대된다.

• 원예과학기술지
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• 제33권1호
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• pp.83-92
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• 2015

xBrassicoraphanus line BB#5, a new synthetic intergeneric hybrid between Brassica rapa L. ssp. pekinensis and Raphanus sativus L. var. rafiphera induced by N-methyl-N-nitroso-urethane mutagenesis in microspore culture, shows high seed fertility and morphological uniformity. Dual-color fluorescence in situ hybridization (FISH) using 5S and 45S rDNA probes and genomic in situ hybridization (GISH) using B. rapa genomic DNA probe were carried out to analyze the chromosome composition and the meiosis pairing pattern compared to its parental lines. The somatic chromosome complement is 2n = 38, which consists of 17 metacentric and two submetacentric chromosomes with lengths of 2.18 to $5.01{\mu}m$. FISH karyotype analysis showed five and eight pairs of 5S and 45S rDNA loci. GISH meiosis pairing analysis showed that 19 complete bivalents were most frequent and accounted for 42% of the 100 pollen mother cells examined. Based on chromosome number, size, morphology, rDNA distribution, and meiosis pairing pattern, both parental genomes of B. rapa and R. sativus appear to exist in xBrassicoraphanus line BB#5, demonstrating its genome integrity. Such stable chromosome constitutions and meiotic pairing patterns in somatic and meiotic cells are very rare in natural and synthetic intergeneric hybrids. Chromosomal studies and genetic and phenotypic changes in allopolyploids a re discussed. The results p resented h erein will b e usef ul f or f urther g enomic s tudy o f xBrassicoraphanus lines and their improvement as promising new breeding varieties.

• Asian-Australasian Journal of Animal Sciences
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• 제16권10호
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• pp.1411-1420
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• 2003

Comparative maps, representing chromosomal locations of homologous genes in different species, are useful sources of information for identifying candidate disease genes and genes determining complex traits. They facilitate gene mapping and linkage prediction in other species, and provide information on genome organization and evolution. Here, the current gene mapping and comparative mapping status of the major livestock species are presented. Two techniques were widely used in comparative mapping: FISH (Fluorescence In Situ Hybridization) and PCR-based mapping using somatic cell hybrid (SCH) or radiation hybrid (RH) panels. New techniques, using, for example, ESTs (Expressed Sequence Tags) or CASTS (Comparatively Anchored Sequence Tagged Sites), also have been developed as useful tools for analyzing comparative genome organization in livestock species, further enabling accurate transfer of valuable information from one species to another.

• 한국약용작물학회지
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• 제12권6호
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• pp.515-518
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• 2004

약용식물로 재배되고 있는 지모를 대상으로 McFISH 기법을 이용하여 45S와 5S rDNA 유전자의 염색체상의 위치를 확인하여 물리지도를 확립하였다. 2쌍의 45S rDNA는 1번 염색체의 단완 말단과 3번 염색체의 동원체 부위에서 관찰되었고, 1번 염색체의 signal이 3번 염색체에서의 signal보다 더 강하게 나타났다. 한 쌍의 5S rDNA signal은 45S rDNA signal과 함께 3번 염색체의 동원체 부위에서 관찰되었다.

• Journal of Animal Science and Technology
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• 제46권4호
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• pp.547-554
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• 2004

텔로미어란 진핵세포에 존재하는 DNA-protein 복합체로서 염색체의 말단부에 tandem repeated DNA 서열(TTAGGG)n과 특정 단백질로 구성되어 있으며 세포 분열이 진행함에 따라 이의 길이가 짧아지게 되고 일정 길이 이하가 되면 세포의 사망이 유기된다. 텔로미어의 역할은 게놈의 보호자로서 염색체의 안정성에 본질적으로 작용할고 감수분열시 상동염색체간의 접합에 주된 작용을 하는 것으로 알려져 있다. 본 연구는 소와 돼지의 성축에 대한 텔로미디어의 핵형과 각 염색체상 텔로미어의 양적 분포 양상을 제시하고자 Holstein과 Landrace를 공시하고 이들로부터 섬유아세포 배양으로 중기상을 획득한 다음 human telomeric DNA probe를 이용하여 형광접합보인법(FISH)으로 분석하였다. 실험 결과 소와 돼지의 모든 염색체의 양 말단부에 뚜렷한 텔로미어 프로브의 접합 양상을 발견할 수 있었다. 소의 경우 염색체들 간 텔로미디어의 양적 변이가 나타났으며 돼지의 경우는 모든 분석된 세포에서 특이적으로 6q1의 위치에 interstitial telomere가 존재하였다. 양적형광접합보인법(Q-FISH) 분석 결과 일부 염색체에서 한쪽 말단의 텔로미어 함량이 유의적으로 높은 것으로 분석되었고, 전체적으로 거의 모든 염색체에서 소, 돼지 공히 q-arm 말단주의 함유율이 p-arm 말단부에 비해 높은 것으로 나타났다. 또한, 염색체상 텔로미어의 상대적 함유율은 소가 돼지에 비해 높게 나타났으며, 전체 염색체 중 텔로미어의 상대적 함유율은 소, 돼지 모두 Y 염색체에서 가장 높았다.

• 한국약용작물학회지
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• 제18권3호
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• pp.186-190
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• 2010

The chromosome number was identified and fluorescence in situ hybridization(FISH) mapping of 5S and 45S rDNAs were conducted for C. minima and C. lanceolata in the genus Codonopsis from Jeju island. In this study, we have confirmed that the somatic metaphase chromosome number determined as 2n=2x=16 was the same as the findings from the previous studies. While the conventional staining method makes it rather difficult to distinguish satellite chromosomes due to high degree of variability, FISH analysis produced the exact number and location of 5S and 45S rDNAs. Both species in the genus Codonopsis have a pair of 5S rDNA and their gene loci were observed on chromosome 3. Although two pairs of 45S rDNAs (one on chromosome 1 and the other on chromosome 8) were identified in both species, the 45S rDNA signals on chromosome 8 in C. minima were significantly weaker than those on chromosome 1. In addition, the 45S rDNA signals on chromosome 1 in C. lanceolata showed that the chromosome is non-homologus. In this study, we have determined cytogenetic characteristics of C. minima and C. lanceolata according to their gene replication patterns.

• Asian Pacific Journal of Cancer Prevention
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• 제13권1호
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• pp.329-337
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• 2012

Considerable attention has been given to the accuracy of HER-2 testing and the correlation between the results of different testing methods. This interest reflects the growing importance of HER-2 status in the management of patients with breast cancer. In this study the detection of HER-2 gene and centromere 17 status was evaluated using dual-colour primed in situ labelling (PRINS) in comparison with fluorescence in situ hybridization (FISH). These two methods were evaluated on a series of 27 formalin fixed paraffin embedded breast carcinoma tumours, previously tested for protein overexpression by HercepTest (grouped into Hercep 1+/0, 2+ and 3+). HER-2 gene amplification (ratio${\geq}2.2$) by PRINS was found in 3:3, 6:21 and 0:3 in IHC 3+, 2+ and 1+/0 cases, respectively. Comparing FISH and IHC (immunohistochemistry), showed the same results as for PRINS and IHC. Chromosome 17 aneusomy was found in 10 of 21 IHC 2+ cases (47.6%), of which 1 (10%) showed hypodisomy (chromosome 17 copy number per cell${\leq}1.75$), 7 (70%) showed low polysomy (chromosome 17 copy number per cell=2.26 - 3.75) and 2 (20%) showed high polysomy (chromosome 17 copy number per cell ${\geq}3.76$). The overall concordance of detection of HER-2 gene amplification by FISH and PRINS was 100% (27:27). Furthermore, both the level of HER-2 amplification and copy number of CEN17 analysis results correlated well between the two methods. In conclusion, PRINS is a reliable, reproducible technique and in our opinion can be used as an additional test to determine HER-2 status in breast tumours.

• Clinical and Experimental Reproductive Medicine
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• 제38권3호
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• pp.126-134
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• 2011

Preimplantation genetic diagnosis (PGD) is gradually widely used in prevention of gene diseases and chromosomal abnormalities. Much improvement has been achieved in biopsy technique and molecular diagnosis. Blastocyst biopsy can increase diagnostic accuracy and reduce allele dropout. It is cost-effective and currently plays an important role. Whole genome amplification permits subsequent individual detection of multiple gene loci and screening all 23 pairs of chromosomes. For PGD of chromosomal translocation, fluorescence $in-situ$ hybridization (FISH) is traditionally used, but with technical difficulty. Array comparative genomic hybridization (CGH) can detect translocation and 23 pairs of chromosomes that may replace FISH. Single nucleotide polymorphisms array with haplotyping can further distinguish between normal chromosomes and balanced translocation. PGD may shorten time to conceive and reduce miscarriage for patients with chromosomal translocation. PGD has a potential value for mitochondrial diseases. Preimplantation genetic haplotyping has been applied for unknown mutation sites of single gene disease. Preimplantation genetic screening (PGS) using limited FISH probes in the cleavage-stage embryo did not increase live birth rates for patients with advanced maternal age, unexplained recurrent abortions, and repeated implantation failure. Polar body and blastocyst biopsy may circumvent the problem of mosaicism. PGS using blastocyst biopsy and array CGH is encouraging and merit further studies. Cryopreservation of biopsied blastocysts instead of fresh transfer permits sufficient time for transportation and genetic analysis. Cryopreservation of embryos may avoid ovarian hyperstimulation syndrome and possible suboptimal endometrium.

• Clinical and Experimental Pediatrics
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• 제56권6호
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• pp.247-253
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• 2013

Purpose: In children with acute leukemia, bone marrow genetic abnormalities (GA) have prognostic significance, and may be the basis for minimal residual disease monitoring. Since April 2007, we have used a multiplex reverse transcriptase-polymerase chain reaction tool (HemaVision) to detect of GA. Methods: In this study, we reviewed the results of HemaVision screening in 270 children with acute leukemia, newly diagnosed at The Catholic University of Korea from April 2007 to December 2011, and compared the results with those of fluorescence in situ hybridization (FISH), and G-band karyotyping. Results: Among the 270 children (153 males, 117 females), 187 acute lymphoblastic leukemia and 74 acute myeloid leukemia patients were identified. Overall, GA was detected in 230 patients (85.2%). HemaVision, FISH, and G-band karyotyping identified GA in 125 (46.3%), 126 (46.7%), and 215 patients (79.6%), respectively. TEL-AML1 (20.9%, 39/187) and AML1-ETO (27%, 20/74) were the most common GA in ALL and AML, respectively. Overall sensitivity of HemaVision was 98.4%, with false-negative results in 2 instances: 1 each for TEL-AML1 and MLL-AF4. An aggregate of diseases-specific FISH showed 100% sensitivity in detection of GA covered by HemaVision for actual probes utilized. G-band karyotype revealed GA other than those covered by HemaVison screening in 133 patients (49.3%). Except for hyperdiplody and hypodiploidy, recurrent GA as defined by the World Health Organizationthat were not screened by HemaVision, were absent in the karyotype. Conclusion: HemaVision, supported by an aggregate of FISH tests for important translocations, may allow for accurate diagnosis of GA in Korean children with acute leukemia.

• Clinical and Experimental Pediatrics
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• 제52권6호
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• pp.701-704
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• 2009

Smith-Magenis 증후군(SMS)은 17번 염색체에서 유전물질을 향유한 곳이 일부 떨어져 나가면서 생기는 질환으로, 신체, 발달 및 행동상의 특징적 이상이 나타나는 질환이다. 출생빈도는 출생아 25,000명 중에 한 명 꼴로 출생하는 것으로 알려져 있으나 최근 분자유전학적 진단 기술의 발달로 이 질환의 환자수가 점차 증가되고 있다. 다양한 임상증상과 더불어 수면장애, 경련에 대한 치료뿐만 아니라 적절한 언어, 행동학적 치료가 필요하다. 저자들은 SMS 환아 2예를 진단하고 치료하고 있는 경험이 있어 이를 보고하는 바이다.