• Clinical and Experimental Reproductive Medicine
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• v.16 no.1
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• pp.41-55
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• 1989

Lymphocyte chromosome preparations obtained by the micromethod (Arakaki and Sparkes, 1963) from 234 our patients (165 females and 69 males) were analysed by C-, NOR-and GC-bandings for chromosome heteromorphisms. The centromeric regions of chromosomes 1,9,16 and the long arm of the Y chromosomes were tested for C heteromorphism. Minor variations found in this study such as inv(9), prominant short arms and large satellites of acrocentrics were also examined by appropriate banding techniques. Of the 234 probands, a total of 125 different C-variants were detected, and the average frequency of the variants per individual was estimated to be 0.53. The observed variations were as follows : 99 qh variants, 5 pericentric inversions of chromosome 9, and 21 satellite and/or short arm variants.

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.119-124
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• 2008

Purpose: Aneuploidy is the cause of diseases such as Down syndrome or Edward syndrome and, more generally, is a major cause of mental retardation and fetal loss. The purpose of this study was to evaluate the association between MTHFR (C677T) or MTRR (A66G) polymorphisms and fetal aneuploidy. Materials and Methods: Data was collected from 37 women who had a fetus with aneuploidy (cases) and 78 women who had previously delivered at least two healthy children without aneuploidy and did not have a history of miscarriage or abnormal pregnancy (controls). The MTHFR (C677T) or MTRR (A66G) polymorphisms were analyzed by PCR-restriction fragment length polymorphism assay. Results: The frequencies of the MTHFR 677 CC, CT, and TT genotypes were 30.7%, 48.7%, and 20.6% in the control group and 37.8%, 48.6%, and 13.5% in the case group, respectively. There were no significant differences in genotype frequencies between the two groups. For the MTRR A66G polymorphism, the frequencies of the AA, AG and GG genotypes were 50%, 46.1%, and 3.9% in the control group and 13.5%, 81.1%, and 5.4% in case group, respectively. The frequency of the MTRR AG mutant was significantly increased in the case group, with an odds ratio of 6.5 (95% CI: 2.3-18.6, P<0.05). Conclusion: The results of this study suggest that mother carriers with the MTRR G allele have an increased risk of fetal aneuploidy, while the MTHFR T allele is not associated with increased risk of fetal aneuploidy. The MTRR A66G polymorphism may be a risk factor for producing a child with chromosomal aneuploidy.

• Proceedings of the Korean Radioactive Waste Society Conference
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• 2004.11a
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• pp.203.2-203.2
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• 2004

• Proceedings of the Zoological Society Korea Conference
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• 1994.10a
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• pp.232.1-232
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• 1994

• Proceedings of the Plant Resources Society of Korea Conference
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• 1996.09b
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• pp.117-121
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• 1996

• Clinical and Experimental Reproductive Medicine
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• v.8 no.2
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• pp.13-24
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• 1981

• Proceedings of the KSAR Conference
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• 2004.06a
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• pp.292-292
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• 2004

배아의 성별 판별을 위해 할구를 biopsy하여 핵상에서 정밀 분석을 하였다. 이 실험에서는 8-에서 16-세포기 배아의 할구를 배아 성결정의 대표물로 사용하여 IVF소 배아를 분석 평가하였다. 55개의 배아를 PCT후 biopsy하여 분석하였다. PCR에 의한 성판별에서 biopsy한 single blastomere와 blastocyst의 성판별의 일치하는 비율은 80%인 것으로 나타났다. IVF 수정란을 염색체 상태에서 평가하기 위해 8- 16- 세포기의 할구를 Karyotyping 하였다. 할구의 Karyotyping을 위해 metaphase 상태에서 vinblastine sulfate에 계속적으로 노출시켜 metaphse Ⅱ 상태를 유도하였다. (중략)

• Proceedings of the Korean Society of Applied Pharmacology
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• 1992.05a
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• pp.53-53
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• 1992

galangin은 1차 발암물질인 MNNG, EMS, 2차 발암물질인 B(a)P 및 DMBA에 의해 유도된 소핵생성에 대하여 억제효과를 나타내었으나 ADM에 대해서는 억제효과를 나타내지 않았다. 한편, S-9 mixture 존재하 benzo(a)pyrene에 의한 자매염색분체교환 빈도에 대해서도 억제효과를 나타내었다. 또한, radiomimetic agent인 BLM 유도 염색체 이상에 대해서도 억제효과를 나타내었다. 이같은 결과를 종합하면 galangin은 DNA alkylation이나 adduct를 형성하는 발암물질에 대하여 억제효과가 큰 것으로 보아 DNA alkylation 및 DNA adduct를 형성을 차단하거나 방향족 탄화수소의 대사 활성화를 방해하여 특정 발암물질들의 염색체 손상작용을 억제해주는 Anticlastogen으로서의 가능성을 보여주었다.

• Proceedings of the Korean Society of Embryo Transfer Conference
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• 2006.10a
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• pp.120-121
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• 2006

• Journal of Genetic Medicine
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• v.8 no.2
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• pp.135-138
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• 2011

The authors of the present study report the prenatal detection of a chromosomal abnormality with additional satellites on the distal short arm of chromosome 8. A 35-year-old woman was referred for amniocentesis because of her advanced maternal age and positive result for maternal serum screening test. Cytogenetic analysis of cultured amniocytes showed a satellite 8p chromosome. The satellite 8p chromosome was positive for nucleolus organizer region (NOR) staining. The parents' karyotypes were normal. Fluorescence in situ hybridization (FISH) study for metaphases of fetal amniocytes revealed a cryptic translocation of chromosomes 8p and 22p. The fetal karyotype was described as 46,XY,8ps.ish t(8;22)(p23.3;p11.2) (D8S504-;D8S504+)dn. The parents decided to continue the pregnancy and a phenotypically normal boy was born at 38 weeks of gestation. In case of de novo terminal NORs detected prenatally, more accurate cytogenetic and molecular analysis should be performed in order to rule out cryptic chromosomal rearrangement among other chromosomes.