• 제목/요약/키워드: Chromosomal variation

검색결과 63건 처리시간 0.033초

산마늘의 캘러스세포에서 체세포군 변이의 핵학적 분석 (Karyological Analysis of Somaclonal Variation in Callus Cells of Allium victorialis var. platyphyllum)

  • Seo, Bong-Bo
    • Journal of Plant Biology
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    • 제38권4호
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    • pp.321-328
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    • 1995
  • Calli obtained from basal disc explants of Allium victorialis var.platyphyllum wre grown in three kinds of nutrient media (MS, BDS, and B5), and the frequencies of mitotic index and the chromosomal aberrations were analysed. The mitotic index varied from 0.55% to 1.01% with respect to culture media and ages. The mitotic irregularities like micro-, bi- and multi-nuclei, chromosome bridge and laggards were noted in each types of calli. The chromosome number variations observed in metaphase stage were identified aneuploid and tetraploid. Structural variations such as dicentric chromosomes, centromere breakage and small chromosomes were observed. Relationship between basal medium and chromosomal variability was not observed in this study. But, in BDS medium, NAA and BA had a more effect on number variation than kinetin.

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한국산 벼멸구 생태형의 염색체 변이 (Chromosomal Variation among Brown Planthopper, Nilaparvata lugens (Stal), Biotypes in Korea)

  • 고현관
    • 한국응용곤충학회지
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    • 제31권4호
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    • pp.366-370
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    • 1992
  • 벼멸구 수컷 정소에서 염색체의 변이정도를 생태형 별로 관찰하였다. 세포 분열 지수는 생태형 3에서 가장 높았고 그 다음으로 생태형 1, 생태형 2이었다. Agmatoploidy, aneuploidy, 성염색체의 loose pairings과 같은 염색체의 구조적 변화는 생태형 1, 생태형 2, 생태형 3순으로 높았다. 감수분열 제1분열기 중기는 성염색체가 상염색체로부터 현격하게 분리되어 있는 세포의 수는 생태형 2에서 가장 높았다.

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염색체 Microarray 검사의 임상적 적용 (Clinical Applications of Chromosomal Microarray Analysis)

  • 서을주
    • 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.

수영 (Rumex acetosa L.) 암.수 체세포클론에서 염색체 변이 (Chromosomal Variation in Female and Male Somaclones of Rumex acetosa L.)

  • 김수영;이미경;김동순;방재욱
    • 식물조직배양학회지
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    • 제28권2호
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    • pp.113-116
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    • 2001
  • 성염색체의 조성이 다른 수영 (Rumex acetosa L.) 암·수 개체의 잎 절편 배양을 통하여 얻은 체세포클론을 대상으로 염색체 분석을 수행하여 다음과 같은 결과를 얻었다. 암 개체의 경우 조사된 25개체 중 21개체 (84%)가 야생형과 같은 염색체 조성 (2n=14)을 보였으며, 야생형에서는 관찰되지 않는 4배체 식물이 4개체 (16%)가 관찰되었다. 그에 비하여 수 개체에서는 20개체 중 4개체 (20%)만이 정상의 염색체 조성을 보여 성에 따른 체세포클론 변이에서의 차이를 보였다. 수 개체에서는 2n=14, 28 등의 이수체가 관찰되었으며, 4배체 (2n=30)로 나타난 체세포클론에서도 성염색체의 뚜렷한 배가현상이 관찰되지 않았다.

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자연 유산 수태산물의 세포유전학적 분석 (A Cytogenetic Analysis of Abortus with Spontaneous Abortion)

  • 오현숙;황시목;권경훈
    • 대한임상검사과학회지
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    • 제40권2호
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    • pp.71-74
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    • 2008
  • Chromosomal abnormalities of abortus have also been used to investigate the most common etiology of spontaneous abortion, but the frequency and the types of spontaneous abortions have also demonstrated considerable variation among in different countries and races. A cytogenetic analysis of 75 abortuses was performed at the GenDix, Inc. from January, 2006 to December, 2007. The frequency of chromosome abnormalities in abortus was 32.0% (24/75 cases). Among the chromosomal abnormalities, trisomy was 62.5% (15/24 cases) and the most frequent trisomy was trisomy 21 with 26.6% (4/15 cases). The average maternal age of normal and abnormal karyotypes was $34.1{\pm}3.3$ and $34.3{\pm}3.3$. Cytogenetic analysis of abortus is important for diagnosis and genetic counseling for parents with spontaneous abortion.

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Clinical application of chromosomal microarray for pathogenic genomic imbalance in fetuses with increased nuchal translucency but normal karyotype

  • Lee, Dongsook;Go, Sanghee;Na, Sohyun;Park, Surim;Ma, Jinyoung;Hwang, Doyeong
    • Journal of Genetic Medicine
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    • 제17권1호
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    • pp.21-26
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    • 2020
  • Purpose: To evaluate the additive value of prenatal chromosomal microarray analysis (CMA) in assessing increased nuchal translucency (NT) (≥3.5 mm) with normal karyotype and the possibility of detecting clinically significant genomic imbalance, based on specific indications. Materials and Methods: Invasive samples from 494 pregnancies with NT ≥3.5 mm, obtained from the Research Center of Fertility & Genetics of Hamchoon Women's Clinic between January 2019 and February 2020, were included in this study and CMA was performed in addition to a standard karyotype. Results: In total, 494 cases were subjected to both karyotype and CMA analyses. Among these, 199 cases of aneuploidy were excluded. CMA was performed on the remaining 295 cases (59.7%), which showed normal (231/295, 78.3%) or non-significant copy number variation (CNV), such as benign CNV or variants of uncertain clinical significance likely benign (53/295, 18.0%). Clinically significant CNVs were detected in 11 cases (11/295, 3.7%). Conclusion: Prenatal CMA resulted in a 3% to 4% higher CNV diagnosis rate in fetuses exhibiting increased NT (≥3.5 mm) without other ultrasound detected anomalies and normal karyotype. Therefore, we suggest using high resolution, non- targeting CMA to provide valuable additional information for prenatal diagnosis. Further, we recommend that a genetics specialist should be consulted to interpret the information appropriately and provide counseling and follow-up services after prenatal CMA.

밀(Triticum spp.)의 미성숙배로부터의 유도한 현탁 배양세포에서의 염색체 변이 (Chromosome Variation in Suspension Cells Derived from Cultured Immature Embryo of Triticum spp.)

  • 방재욱
    • Journal of Plant Biology
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    • 제33권3호
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    • pp.189-196
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    • 1990
  • Suspension cell lines have been newly established from the calli derived from the immuature embryo culture of hexapolid (Triticum aestivum var. sicco), tetrapolid (T. durum) and diploid (T. tauchii or Aegilops squarrosa) wheat species. The chromosomal variation in suspension cultured cell lines was examined and old cell line, C82d, established from T. aestivum var. copain was also used. New method using 1-bromonaphthalene for metaphase rapping of suspension cells was developed. Variation in chromosome number was observed among all the suspension lines. Cells with doubled chromosome number and deleted chromosome were also observed. Extensive structural changes in chromosome were found in C82d line. Chromosome aberrations showed loss of chromosome arms and chromosome segment. The mean chromosome number in suspension cells of T. aestivum var. sicco was 40, in C82d line 33, in T. durum 28 and in T. tauchii 14. The stability of chromosome in suspension cells of diploid and tetrapolid wheats was higher than that of hexaploid wheat.

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