• Clinical and Experimental Pediatrics
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• 제48권12호
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• pp.1389-1389
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• 2005

저자들은 출생 시 납작한 후두골, 낮은 변형 귀, 양안 격리증, 넓고 낮은 콧등, 얇은 입술, 넓고 짧은 목의 덧살, 저긴장증, 피부의 다모증, 잠복고환 등의 소견을 보이는 미숙아의 염색체 핵형 분석에서 부모의 불균형 전도로부터 재조합된 염색체 이상의 결과로 인해 46,XY,rec(3)dup(3)(q21)del(3)(p25)inv(3)(p25q21)로 진단된 증례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제55권12호
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• pp.487-490
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• 2012

We report a case of isodicentric chromosome 15 (idic(15) chromosome), the presence of which resulted in uncontrolled seizures, including epileptic spasms, tonic seizures, and global developmental delay. A 10-month-old female infant was referred to our pediatric neurology clinic because of uncontrolled seizures and global developmental delay. She had generalized tonic-clonic seizures since 7 months of age. At referral, she could not control her head and presented with generalized hypotonia. Her brain magnetic resonance imaging scans and metabolic evaluation results were normal. Routine karyotyping indicated the presence of a supernumerary marker chromosome of unknown origin (47, XX +mar). An array-comparative genomic hybridization (CGH) analysis revealed amplification from 15q11.1 to 15q13.1. Subsequent fluorescence in situ hybridization analysis confirmed a idic(15) chromosome. Array-CGH analysis has the advantage in determining the unknown origin of a supernumerary marker chromosome, and could be a useful method for the genetic diagnosis of epilepsy syndromes associated with various chromosomal aberrations.

• 한국동물학회지
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• 제19권4호
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• pp.179-186
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• 1976

DNA 回復合成과 染色體交換과의 聯關性을 추구하기 위해 알킬화제 突然變異誘發原인 MMC, MNNG, MMS를 培養한 사람의 淋巴球와 HeLa $S_3$ 細胞에 處理하여 다음과 같은 結果를 얻었다. 1. 이들 알킬화제에 의해 誘發된 DNA 回復合成은 MMC, MNNG, MMS의 濃度가 각각 $3 \\times 10^-7, 1 \\times 10^-6, 5 \\times 10^-4 M$에서 檢出되었다. 이는 MMC가 가장 强力한 DNA 回復合成 誘發原이며 다음이 MNNG 그 다음이 MMS임을 뜻한다. MMC와 MNNG는 濃度增加에 따른 DNA 回復合成에 큰 차이를 보이지 않으나 MMS는 현저한 增加를 보인다. 2. MMC에 의한 染色體異常은 濃度가 增加함에 따라 그 率에 현저한 增加를 보이나 染色體交換率에는 별차이가 없다. 그러나 MNNG는 染色體異常率에 차가 없고 染色體交換은 觀察되지 않았다. MMS는 染色體異常 및 染色體交換 모두 濃度의 增加에 따른 그 率의 增加를 나타낸다. 이러한 結果는 突然變異誘發原에 의한 DNA 回復合成이 染色體交換 및 染色體異常과 직접적인 연관성이 없음을 시사하는 것이다.

• 한국환경과학회지
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• 제7권5호
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• pp.599-605
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• 1998

The purpose of this work was to examine whether X-Y chromosome dissociation in the primary spermatocytes of mice could be used as an in vivo short-term assaying system that detect environmental mutagens. Four alkylating agents(EMS, MMS, MMC and MNNG) which were known as strong mutagens were administered to BALB/c male mice 3-4 months old. In the control group, the mean frequencies of previously dissociated X and Y chromosomes and autosomes were 7.17% and 2.12%, respectively. Compared to the control group, mutagen-treated groups have no significant differences in dissociation rate of autosomes, while these poops were about 1.2-2.5 times higher in the frequencies of X-Y dissociation. Generally, X-Y dissociation frequency increased consistently with the concentration of mutagens whereas the tendency of autosome dissociation frequency was variable among several mutagens. These results suggest that X-Y dissociation in the primary spermatocytes of mice is applicable as an vivo short-term assaying system for environmental mutagens. There were significantly distinct increase in dissociation of X-Y chromosome in both the hybrid and parents but the X-Y previous dissociation of hybrid appeared higher frequency than BALB /c and wild mice. These results indicate that the factor related to binding X-Y chromosome is specific to strains.

• Journal of Life Science
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• 제11권2호
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• pp.81-82
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• 2001

The human ribosomal protein 54 genes, RPS4X and RPS4Y are located on the X and Y chromosomes. They have been postulated as candidate for Turner syndrome which was characterized by gonadal dysgenesis, short stature, and various external and internal anomalies. Using the BLAST search program, we identified sixteen RPS4 pseudogenes from the human genome and analyzed them phylogenetically. The RPS4-C12-1, C12-2, and C12-3 pseudogenes from chromosome 12 have been evolved independently during hominid evolution. The RPS4X gene from X chromosome it closely related to the RPS4-C12-2 from chromosome 12 and RPS4-C5 from chromosome 5, whereas the RPS4Y gene is very closely related to RPS4-C16 from chromosome 16. The exact mapping of the RPS4 pseudogene family was peformed, indicating that the RPS4 pseudogene family was mapped on human chromosomes 1, 2, 5, 6, 8, 10, 11, 12, 13, 16, 18, 19 and 20. Taken together, the precise chromosomal localization and phylegenetic relationship of the RPS4 pseudo-genes could be of great use in further study for understanding the Turner syndrome.

• 한국환경성돌연변이발암원학회지
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• 제18권2호
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• pp.129-134
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• 1998

To evaluate the genotoxicity of CKD-602, an anticancer agent the in viかo reverse mutation assay using Salmonella typhimurium, the Chromosome aberration assay using Chinese hamster lung (CHL) cells and the in vivo micronucleus assay using bone marrow cells of ddY mice were performed. In the reverse mutation assay, CKD-602 did not induced mutagenicity in Salmonella typhimurium TA 98, TA 100, TA 1535, and TA 1537 strains with and without metabolic activation. In the chromosome aberration test using CHL cells, there was an increased incidence of structural aberrations induced by CKD-602 without metabolic activation during 24 and 48 hours, but CKD-602 did not induce chromosome aberration with metabolic activation. The in vivo induction of micronuclei was measured in polychromatic erythrocytes of bone marrow of male ddY mice. At 24 hours after treatment with CED-602 by i.p. once, there was an increased incidence of micronucleated polychromatic erythrocytes in bone marrow of ddY male mice.

• 한국식품과학회지
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• 제27권6호
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• pp.1003-1007
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• 1995

포유동물 세포인 CHL세포를 대상으로 MMC를 농도별로 투여하여 세포분열지수 및 염색체 이상 유발 및 그 양반응관계를 관찰하고 현미 추출물이 MMC에 의한 염색체 이상 빈도에 미치는 영향을 살펴보았다. 1. 대조군인 DMSO처리구에 비해 MMC 및 현미 추출물 투여에 의해 CHL세포의 세포분열 지수는 차이가 나타나지 않았다. 2. CHL 세포를 대상으로 MMC의 농도를 $0.2{\sim}5.0\;{\mu}g/assay(0.04{\sim}1.0\;{\mu}g/ml)$로 하여 염색체 이상 빈도를 살펴본 결과 $0.2\;{\mu}g/assay$에서 $3.0\;{\mu}g/assay$까지 MMC의 농가 증가함에 따라 염색체 이상의 빈도가 점차 증가하는 경향을 나타내었으며, MMC의 농도가 $3.0\;{\mu}g/assay$ 보다 높았을 경우에는 MMC에 의한 세포독성으로 염색체 이상 분석을 할 수 없었다. MMC에 의한 염색체 이상은 염색분체형의 갭과 절단이 많이 관찰되었다. 3. 세포를 변이원 MMC $2\;{\mu}g/assay(0.04\;{\mu}g/ml)$와 현미 추출물을 $0.75{\sim}10.0\;mg/assay$의 농도로 투여하였을 경우 각 농도에서 유의적으로 MMC에 의한 염색체 이상 빈도를 감소시키는 것으로 나타났으며(p<0.01, p<0.05), 현미 추출물의 농도 증가에 따라서는 염색체 이상을 나타내는 세포수가 다소 불규칙하였으나 $7{\sim}30%$로 감소하는 경향이었다.

• 식물분류학회지
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• 제39권4호
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• pp.247-253
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• 2009

한국산 쑥속 20분류군의 분류를 위하여 체세포 염색체수를 조사하였다. 본 연구에서 취급된 분류군들의 체세포 염색체수는 2n = 16, 18, 34, 36, 50, 52, 54로서 기본 염색체수는 x=8, 9, 10, 13, 17이었으며, 실제비쑥(A. japonica var. angustissima 2n = 36)의 체세포염색체수는 본 연구에서 처음으로 밝혀졌다. 사철쑥 (A. capillaris 2n = 18), 섬쑥(A. japonica var. hallaisanensis 2n = 36), 갯제비쑥(A. japonica subsp. littoricola 2n = 36), 개똥쑥(A. annua 2n = 18), 개사철쑥(A. carvifolia 2n = 18), 큰비쑥(A. fukudo 2n = 16), 맑은대쑥(A. keiskeana 2n = 18), 넓은잎외잎쑥(A. stolonifera 2n = 36), 그늘쑥(A. sylvatica 2n = 16), 물쑥(A. selengensis 2n = 36), 산쑥 (A. montana 2n = 52), 뺑쑥(A. lancea 2n = 16), 산흰쑥(A. sieversiana 2n = 18) 등의 13분류군의 염색체수는 기존 보고와 일치하였으며, 기존 보고와 다르게 파악된 종류는 제비쑥(A. japonica var. japonica 2n = 18, 36 vs 2n = 36), 더위지기(A. sacrorum 2n = 18, 54 vs 2n = 54), 덤불쑥(A. rubripes 2n = 16, 34 vs 2n = 16), 쑥(A. indica 2n = 34, 36 vs 2n = 34), 참쑥(A. codonocephala 2n = 18, 50, 54 vs 2n = 50), 황해쑥(A. argyi 2n = 34, 36, 50 vs 2n = 34)의 6분류군이었다. 한국산 쑥속의 체세포 염색체수는 제비쑥, 더위지기, 참쑥, 황해쑥, 산쑥, 그늘쑥의 분류에 매우 유용한 형질이었다.

• Journal of the Korean Data and Information Science Society
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• 제17권2호
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• pp.325-333
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• 2006

We describe tests for detecting and locating quantitative traits loci (QTL) for traits in Hanwoo. Lod scores and a permutation test have been described. From results of a permutation test to detect QTL, we select major DNA markers of BMS1167 microsatellite locus in Hanwoo chromosome 17 for further analysis. K-means clustering analysis applied to four traits and eight DNA markers in BMS1167 resulted in three cluster groups. We conclude that the major DNA markers of BMS1167 microsatellite locus in Hanwoo chromosome 17 are markers 100bp, 108bp and 110bp.

• 한국잠사곤충학회지
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• 제43권1호
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• pp.53-54
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• 2001

The chromosome number of Morus bombycis Koidz. and Morus monogolica C.K.Schn. growing wild in the Korea Peninsula is diploid (2n=28) and that of Morus tiliaefolia Makino is hecxaploid (2n=84). The somatic cell division of each species is nomal.