A New Multicolor Fluorescence In Situ Hybridization Probe Set Directed Against Human Heterochromatin

Bucksch, M.; Ziegler, Monika; Kosayakova, Nadezda; Mulatinho, Milene; Llerena, Juan Clinton; Morlot, Susanne; Fischer, Wolfgang; Polityko, A; Kulpanovich, Anna; Petersen, Michael B.; Belitz, Britta; Trifonov, Vladimir A.; Weise, Anja; Liehr, Thomas; Hamid, Ahmed B.

doi:10.1369/0022155412441708

Cited by 18 publications

(16 citation statements)

References 39 publications

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“…It consisted of a commercially available chromosome 9 alpha-satellite probe (Abbott/ Vysis) combined with two microdissection derived probes: (i) midi36 (specific for 9p12 and 9q13~21.1) [6] and (ii) a probe specific for 9q12 (midi18) [17]. We termed the probe set as 9het-mix.…”

Section: Methodsmentioning

confidence: 99%

Heteromorphic variants of chromosome 9

et al. 2013

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BackgroundHeterochromatic variants of pericentromere of chromosome 9 are reported and discussed since decades concerning their detailed structure and clinical meaning. However, detailed studies are scarce. Thus, here we provide the largest ever done molecular cytogenetic research based on >300 chromosome 9 heteromorphism carriers.ResultsIn this study, 334 carriers of heterochromatic variants of chromosome 9 were included, being 192 patients from Western Europe and the remainder from Easter-European origin. A 3-color-fluorescence in situ hybridization (FISH) probe-set directed against for 9p12 to 9q13~21.1 (9het-mix) and 8 different locus-specific probes were applied for their characterization. The 9het-mix enables the characterization of 21 of the yet known 24 chromosome 9 heteromorphic patterns. In this study, 17 different variants were detected including five yet unreported; the most frequent were pericentric inversions (49.4%) followed by 9qh-variants (23.9%), variants of 9ph (11.4%), cenh (8.2%), and dicentric- (3.8%) and duplication-variants (3.3%). For reasons of simplicity, a new short nomenclature for the yet reported 24 heteromorphic patterns of chromosome 9 is suggested. Six breakpoints involved in four of the 24 variants could be narrowed down using locus-specific probes.ConclusionsBased on this largest study ever done in carriers of chromosome 9 heteromorphisms, three of the 24 detailed variants were more frequently observed in Western than in Eastern Europe. Besides, there is no clear evidence that infertility is linked to any of the 24 chromosome 9 heteromorphic variants.

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Section: Methodsmentioning

confidence: 99%

Heteromorphic variants of chromosome 9

et al. 2013

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“…Furthermore, the heterochromatin mix (HCM-) probe set [38] covering chromosomal regions 1q12, 16q11.2, 9q12, 9p12/ 9q13 (midi36) 15p11.2-p11.1, 19p12/q12 and Yq12 and subcentromere specific multicolor FISH (subcen-FISH) for chromosomes 3, 6, 7, 9, 11, 13 and 20 were also applied [36]. …”

Section: Methodsmentioning

confidence: 99%

First detailed reconstruction of the karyotype of Trachypithecus cristatus (Mammalia: Cercopithecidae)

et al. 2013

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BackgroundThe chromosomal homologies of human (Homo sapiens = HSA) and silvered leaf monkey (Trachypithecus cristatus = TCR) have been previously studied by classical chromosome staining and by fluorescence in situ hybridization (FISH) applying chromosome-specific DNA probes of all human chromosomes in the 1980s and 1990s, respectively.ResultsHowever, as the resolution of these techniques is limited we used multicolor banding (MCB) at an ~250-band level, and other selected human DNA probes to establish a detailed chromosomal map of TCR. Therefore it was possible to precisely determine evolutionary conserved breakpoints, orientation of segments and distribution of specific regions in TCR compared to HSA. Overall, 69 evolutionary conserved breakpoints including chromosomal segments, which failed to be resolved in previous reports, were exactly identified and characterized.ConclusionsThis work also represents the first molecular cytogenetic one characterizing a multiple sex chromosome system with a male karyotype 44,XY1Y2. The obtained results are compared to other available data for old world monkeys and drawbacks in hominoid evolution are discussed.

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“…There are diferent applications which used FISH-based methods like reverse-FISH [27], ibre-FISH [28,29], M-FISH (multicolor FISH) [30], SKY (spectral karyotyping FISH) [31], low-FISH [32], Q-FISH (quantitative FISH) [33], COBRA-FISH (combined binary ratio labelling FISH) [34], cenM-FISH (centromere-speciic M-FISH) [35], podFISH (parental origin determination FISH) [36] and heterochromatin-M-FISH [37]. The most advanced FISH-based approaches included COBRA-FISH, M-FISH and SKY.…”

Section: Fish Developmentmentioning

confidence: 99%

The Use of Molecular Cytogenetic Techniques for the Identification of Chromosomal Abnormalities

Kalkan¹

2017

Chromosomal Abnormalities - A Hallmark Manifestation of Genomic Instability

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Chromosomal analysis is an increasingly important diagnostic procedure in numerous areas of clinical medicine that includes haematology, perinatology or obstetrics. Chromosomal disorders are viewed as a major category of genetic diseases, and sometimes the identiication of abnormal chromosomes is not easily applicable. Just like the identiication of the marker chromosome or the identiication of the complex karyotypes is important in clinics for the evaluation of the patient prognosis as well as the treatment response, needless to say; luorescence in situ hybridization (FISH) is the most suitable and rapid method in the above-mentioned situations. It gives chance to the rapid analysis of chromosomal aneuploidies in dividing and non-dividing cells. In this chapter, we will discuss the general principles of the chromosomal abnormalities and the molecular cytogenetic techniques that can help the identiication of presence or absence of a particular DNA sequence or the evaluation of the number of organization of a chromosome or chromosomal region.

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A New Multicolor Fluorescence In Situ Hybridization Probe Set Directed Against Human Heterochromatin

Cited by 18 publications

References 39 publications

Heteromorphic variants of chromosome 9

Heteromorphic variants of chromosome 9

First detailed reconstruction of the karyotype of Trachypithecus cristatus (Mammalia: Cercopithecidae)

The Use of Molecular Cytogenetic Techniques for the Identification of Chromosomal Abnormalities

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