• Title/Summary/Keyword: Chromosomal variation

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

  • Seo, Bong-Bo
    • Journal of Plant Biology
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    • v.38 no.4
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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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Chromosomal Variation among Brown Planthopper, Nilaparvata lugens (Stal), Biotypes in Korea (한국산 벼멸구 생태형의 염색체 변이)

  • ;R.C. Saxena;A.A. Barrion
    • Korean journal of applied entomology
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    • v.31 no.4
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    • pp.366-370
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    • 1992
  • Salient chromosomal variations during the first meiotic division in primary spermatocyLes of the three brown planthopper, Nilaparvata lugens (Stal) , biotypes were observed. The meiotic index was highest in biotype 3 (58.6), followed by biotype 1 (39.4) and biotype 2 (23.6). Total chromosomal aberration including agmatoploidy, aneuploidy, loose pairings of sex chromosomes, and cytoplasmic shrinkage was found high in the order of biotype 1 (60.6%),2 (47.9 %), and 3 (38.1 %). However, percent agmatoploidy was highest in biotype 2 (19.6%) whereas in biotypes 3 and 1, it was 9.5% and 2.5%, respectively. The number of cells with isolated sex chrosomomes was observed highest in biotype 2.

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

  • Seo, Eul-Ju
    • Journal of Genetic Medicine
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    • v.7 no.2
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    • pp.111-118
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    • 2010
  • Chromosomal microarray analysis (CMA) enables the genome-wide detection of submicroscopic chromosomal imbalances with greater precision and accuracy. In most other countries, CMA is now a commonly used clinical diagnostic test, replacing conventional cytogenetics or targeted detection such as FISH or PCR-based methods. Recently, some consensus statements have proposed utilization of CMA as a first-line test in patients with multiple congenital anomalies not specific to a well-delineated genetic syndrome, developmental delay/intellectual disability, or autism spectrum disorders. CMA can be used as an adjunct to conventional cytogenetics to identify chromosomal abnormalities observed in G-banding analysis in constitutional or acquired cases, leading to a more accurate and comprehensive assessment of chromosomal aberrations. Although CMA has distinct advantages, there are several limitations, including its inability to detect balanced chromosomal rearrangements and low-level mosaicism, its interpretation of copy number variants of uncertain clinical significance, and significantly higher costs. For these reasons, CMA is not currently a replacement for conventional cytogenetics in prenatal diagnosis. In clinical applications of CMA, knowledge and experience based on genetics and cytogenetics are required for data analysis and interpretation, and appropriate follow-up with genetic counseling is recommended.

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

  • 김수영;이미경;김동순;방재욱
    • Korean Journal of Plant Tissue Culture
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    • v.28 no.2
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    • pp.113-116
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    • 2001
  • Chromosomal variation was investigated in the female and male somaclones regenerated from the leaf segment culture of Rumex acetosa L. Difference in phenotype depending on the sexuality was not observed. In female somaclones, 21 among 25 somaclones carried the same chromosome complements (2n=14) with wildtype and others were tetraploids (2n=28), Considerable chromosomal variation was found in male somaclones. Only 4 among 20 somaclones carried normal chromosome number (2n=15) and 13 somaclones were aneuploids.

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

  • Oh, Hyun-Sook;Hwang, Si-Mok;Kwon, Kyung-Hun
    • Korean Journal of Clinical Laboratory Science
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    • v.40 no.2
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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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    • v.17 no.1
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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.

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

  • 방재욱
    • Journal of Plant Biology
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    • v.33 no.3
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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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