• 제목/요약/키워드: Chromosome analysis

검색결과 874건 처리시간 0.034초

두경부 선양낭성암종에서 형광동소결합을 이용한 제17번 염색체의 다염색체 소견 (Fluorescence In Situ Hybridization Analysis for Polysomy of Chromosome 17 in Head and Neck Adenoid Cystic Carcinomas)

  • 최건;박재형;최충식;송재준;정광윤;최종욱
    • 대한두경부종양학회지
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    • 제16권1호
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    • pp.3-8
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    • 2000
  • Background and Objectives: Adenoid cystic carcinoma of salivary glands is characterized by insidious growth over many years, local recurrences, and distant metastasis and classified to three distinct histologic subtypes: tubular, cribriform, and solid. The solid type is known to have the worst prognosis. However, histopathologic heterogeneity is observed in tumors from the same patient. We have attempted to elucidate the genotypic differences, characterized by polysomies of chromosome 17, in adenoid cystic carcinoma according to the phenotypic histopathologic heterogeneity. Materials and Methods: Fluorescence in situ hybridization was performed on formalin-fixed paraffin blocks from seven patients with head and neck adenoid cystic carcinoma, using the centromeric $\alpha$-satellite probe of chromosome 17 to detect nuclei exhibiting polysomy. The difference in polysomeric chromosome expression in cribriform, tubular, solid type and type I, II, III according to the Szanto classification was analyzed. Results: Polysomy of chromosome 17 was found in 15.28% of the cribriform type, in 15.68% of the tubular type, and in 18.87% of the solid type. The proportion of polysomy was statistically higher in the solid type than in the cribriform type(p<0.05), and the proportion of polysomy increased progressively from type 1 to type 3, but this trend was statistically insignificant(p>0.05). Conclusion: We suggest that there may be genetic variations in tumor from the same patient depending on the histopathologic heterogenetiy in adenoid cystic carcinomas.

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Screening and Cloning of RAPD Markers from the W Chromosome of Silkworm, Bombyx mori L.

  • Chen, Keping;Zhang, Chunxia;Yao, Qin;Xu, Qinggang;Tang, Xudong
    • International Journal of Industrial Entomology and Biomaterials
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    • 제8권2호
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    • pp.161-167
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    • 2004
  • Silkworms sex determination drew high attention from researchers. Sex chromosomes on the silkworm are of ZW type for females and ZZ type for males. Chromosome W plays an important role in sex determination. Although several molecular linkage maps have been constructed for silkworm, very few markers are discovered on the W chromosome. In order to look for molecular markers and to further locate the Fern gene on chromosome W, we used genomic DNA from both female and male larvae of a silkworm strain named 937 as PCR templates for RAPD amplification with 200 arbitrary 10-mer primers. The amplification results showed three female-specific bands, namely ${OPG-07_496}, {OPC-15_1,660} and {OPE-18_1,279}$. Further verification, however, revealed no band from OPG-07 and OPC-15 in either sex in the strain 798, but OPE-18 provided female-specific band in the strains Suluan7 and C108, and absent in both males and strain 798. This indicates that the bands from ${OPG-07_496} and {OPC-15_1,660}$ are probably female-specific in strain 937, and the band from OPE-18 was probably amplified from a common segment shared by most strains. The genomic DNAs from OPG-07 and OPC-15 were cloned and sequenced. Sequence analysis showed that the DNAs from OPG-07 and OPC-15 have high identities with the retrotransposable elements, and DNA from OPC-15 contains a portion of sequence which probably encodes an eukaryotic translation initiation factor 4E binding protein (eIF4EBP).

Karyotype Analysis of Eight Korean Native Species in the Genus Iris

  • Kim, Hyun-Hee;Park, Young-Wook;Yoon, Pyung-Sub;Choi, Hae-Woon;Bang, Jae-Wook
    • 한국약용작물학회지
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    • 제12권5호
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    • pp.401-405
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    • 2004
  • Karyotypes were established in the eight Korean native species of the genus Iris. Chromosome numbers were 2n=50 in I. koreana and 2n=42 in I. uniflora var. carinata and their karyotype formulas were K = 2n = 50 = 14m + 28sm + 8st and K = 2n = 42 = 16m + 26sm, respectively. I. dichotoma and I. pseudoacorus were diploids of 2n=34. However, they showed different karyotype formulas: K = 2n = 34 = 26m + 6sm + 2st in I. dichotoma and K = 2n = 34 = 8m + 24sm + 2st in I. pseudoacorus. I. setosa, and I. pallasii var. chinensis carried the same chromosome numbers of 2n=40, but they showed different patterns of karyotype formula: K = 2n = 40 = 22m + 14sm + 4st in I. setosa and K = 2n = 40 = 26m + 12sm + 2st in I. pallasii var. chinensis. I. sanguinea was a diploid of 2n=28 and the karyotype formula was K = 2n = 28 = 14m + 14sm. I. ensata var. spontanea was a diploid of 2n=24 and the karyotype formula was K = 2n = 24 = 10m + 14sm. Each species showed characteristic chromosome composition with a pair of satellite chromosome except I. koreana with three pairs of satellite chromosomes. The chromosomes of I. dichotoma and I. uniflora were comparatively short, while the chromosomes of I. ensata were remarkably bigger than those of other species. These cytological data will give a useful information for the identification and breeding program of the Iris plants.

미꾸라지($Misgurnus$ $mizolepis$)와 미꾸리($M.$ $anguillicaudatus$) 및 유도된 종간 잡종의 세포유전학적 연구 (Cytogenetic Analysis of Reciprocal Hybrids Reveals a Robertsonian Translocation between Mud Loach ($Misgurnus$ $mizolepis$) and Cyprinid Loach ($M.$ $anguillicaudatus$))

  • 이승기;김동수
    • 한국어류학회지
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    • 제24권1호
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    • pp.1-10
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    • 2012
  • 미꾸라지, 미꾸리 및 상반교배를 통해 유도된 종간 잡종의 세포유전학적 분석을 수행하였다. 미꾸라지와 미꾸리의 염색체 수는 각각 2n=48 (12M+4SM+32A), 2n=50 (10M+4SM+36A)이었고, 잡종군들의 염색체수는 각각 2n=49 (11M+4SM+34A)였다. 모든 그룹의 염색체는 동일한 arm number (NF=64)를 갖고 있었으며, 염색체 다형현상, 암수 간 이형의 염색체는 관찰되지 않았다. 적혈구의 크기, DNA 함량을 분석한 결과 잡종군들은 미꾸라지와 미꾸리의 중간 값을 나타냈다. 염색체의 NORs (nucleolar organizing regions)은 모두 동일한 중부염색체 단완부에서 Ag-positive signal이 나타났다. 이상의 결과는 미꾸라지의 1번 중부 염색체와 미꾸리의 차단부 염색체가 Robertsonian 형의 염색체 전좌 과정을 거쳤을 것을 시사한다.

Combined Cytogenetic and Molecular Analyses for the Diagnosis of Prader-Willi/Angelman Syndromes

  • Borelina, Daniel;Engel, Nora;Esperante, Sebastian;Ferreiro, Veronica;Ferrer, Marcela;Torrado, Maria;Goldschmidt, Ernesto;Francipane, Liliana;Szijan, Irene
    • BMB Reports
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    • 제37권5호
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    • pp.522-526
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    • 2004
  • Prader-Willi (PWS) and Angelman (AS) are syndromes of developmental impairment that result from the loss of expression of imprinted genes in the paternal (PWS) or maternal (AS) 15q11-q13 chromosome. Diagnosis on a clinical basis is difficult in newborns and young infants; thus, a suitable molecular test capable of revealing chromosomal abnormalities is required. We used a variety of cytogenetic and molecular approaches, such as, chromosome G banding, fluorescent in situ hybridization, a DNA methylation test, and a set of chromosome 15 DNA polymorphisms to characterize a cohort of 27 PWS patients and 24 suspected AS patients. Molecular analysis enabled the reliable diagnosis of 14 PWS and 7 AS patients, and their classification into four groups: (A) 6 of these 14 PWS subjects (44%) had deletions of paternal 15q11-q13; (B) 4 of the 7 AS patients had deletions of maternal 15q11-q13; (C) one PWS patient (8%) had a maternal uniparental disomy (UPD) of chromosome 15; (D) the remaining reliably diagnoses of 7 PWS and 3 AS cases showed abnormal methylation patterns of 15q11-q13 chromosome, but none of the alterations shown by the above groups, although they may have harbored deletions undetected by the markers used. This study highlights the importance of using a combination of cytogenetic and molecular tests for a reliable diagnosis of PWS or AS, and for the identification of genetic alterations.

성장부진과 발달지연을 보인 환아에서 확인된 환상 9번 염색체 1례의 세포유전학적인 연구 (Cytogenetic evaluation of a patient with ring chromosome 9 presenting failure to thrive and developmental delay)

  • 박윤미;노한내;김숙자;안영민
    • Clinical and Experimental Pediatrics
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    • 제51권4호
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    • pp.426-430
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    • 2008
  • 환상 염색체의 발생 기전은 염색체 말단 부분이 결손된 후 양 끝이 융합되거나 끝분절 염기서열이 앞뒤역순상동서열로 융합될 경우로 생각되고 있다. 환상 염색체는 세포 분열을 하는 동안 불안정하기 때문에 세포핵이 없는 딸세포의 사망률이 증가하게 되어 생존하는 세포수가 감소하고 성장 장애가 발생하게 된다. 표현형은 염색체 손실의 정도에 따라 다양하다. 저자들은 최초로 심각한 저신장을 주소로 내원한 환아의 염색체 검사상 환상 9번 염색체를 확인하였기에 이를 보고하는 바이다.

Drosophila simulans와 D. mauritiana 사이 종간잡종의 성즐과 생식궁 형성에 미치는 X 염색체의 효과 (Effects of the X Chromosome on the Formation of Sex Comb and Genital Aech in the Hybrids between Drosophila simulans and D. Mauritiana)

  • 최영현;유미애;이원호
    • 한국응용곤충학회지
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    • 제35권3호
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    • pp.216-220
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    • 1996
  • Drosophila simulans와 D. mauritiana는 동일 subgroup에 속하는 동포종으로, 전자는 전세계 분포종이며, 후자는 Mauritius 섬에만 서식하는 지역종이다. D. simulans의 성즐(sex comb)은 약 9.83개의 치열로 구성되어 있으며, D, mauritiana의 성즐 치열수는 약 12.90개 정도이다. D. simulans의 생식궁(genital arch)은 큰 반월형이며, D. mauritiana는 가는 막대형이다. 두 종간 성즐의 치열수와 생식궁의 형태적 차이에 미치는 X 염색체의 효과를 알아보기 위한 유전적 분석을 실시하였으며, 이를 위하여 X 염색체상 돌연변이 유전자들을 가지는 D. simulans 계통과 정상의 D. mauritiana 사이의 잡종 {TEX}$F_{1}${/TEX}을 부모계통과 역교배를 실시하여 얻은 자손들을 대상으로 상기 두가지 형질의 분석을 실시하였다. F1의 성즐 치열수는 평균 11.79개 정도였으며, 외부생식기의 일반적인 형태는 D. simulans와 D. mauritiana의 중간형이었다. 성즐의 치열수와 외부생식기의 주요 특징분석에서 X 염색체 효과에 따른 유의적인 차이는 거의 없는 것으로 나타났다.

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북방전복, Haliotis discus hannai 3배체의 세포유전학적 연구 (Cytogenetic Analysis of the Triploid Pacific Abalone, Haliotis discus hannai)

  • 지영주;장영진
    • 한국패류학회지
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    • 제28권1호
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    • pp.37-43
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    • 2012
  • 북방전복, Haliotis discus hannai의 3배체를 제온자극으로 유도하고 부화유생인 trochophore를 이용하여 염색체 표본을 만들었고, 유도된 3배체와 정상 2배체 북방전복은 실내 유수식의 동일 환경에서 51개월 동안 사육되었으며 채취된 혈구를 채취하여 DNA 함량 측정에 사용되었다. 2배체 및 유도된 3배체의 염색체 수를 조사한 결과, 2배체 염색체 수는 2n = 36으로 나타났고, 3배체의 경우에는 3n = 54로 나타나 3배체는 2배체에 비해 1.5배의 염색체 수를 나타내었다. Flow cytometry로 인간의 백혈구를 control로 하여 북방전복의 DNA 함량을 측정한 결과, 북방전복의 DNA 함량은 1.743 pg/cell이었으며 3배체 북방전복의 DNA함량은 2배체 전복의 1.49배의 DNA 함량을 나타내어 3배체 특성인 모계 2n DNA 함량과 부계 n DNA함량을 나타내었다.

FISH Karyotype and GISH Meiotic Pairing Analyses of a Stable Intergeneric Hybrid xBrassicoraphanus Line BB#5

  • Belandres, Hadassah Roa;Waminal, Nomar Espinosa;Hwang, Yoon-Jung;Park, Beom-Seok;Lee, Soo-Seong;Huh, Jin Hoe;Kim, Hyun Hee
    • 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.