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

Author:

Bucksch Maria12345,Ziegler Monika12345,Kosayakova Nadezda12345,Mulatinho Milene V.12345,Llerena Juan C.12345,Morlot Susanne12345,Fischer Wolfgang12345,Polityko Anna D.12345,Kulpanovich Anna I.12345,Petersen Michael B.12345,Belitz Britta12345,Trifonov Vladimir12345,Weise Anja12345,Liehr Thomas12345,Hamid Ahmed B.12345

Affiliation:

1. Institute of Human Genetics, Jena University Hospital, Jena, Germany (MB,MZ,NK,AW,TL,ABH)

2. Medical Genetics Department, Fernandes Figueira Institute, FIOCRUZ, Rio de Janeiro, Brazil (MVM,JCL)

3. MVZ Wagnerstibbe, Hannover, Germany (SM,WF)

4. National Medical Center, Minsk, Belarus (ADP)

5. Belarus State Medical University, Minsk, Belarus (AIK)

Abstract

A new multicolor fluorescence in situ hybridization (mFISH) probe set is presented, and its possible applications are highlighted in 25 clinical cases. The so-called heterochromatin-M-FISH (HCM-FISH) probe set enables a one-step characterization of the large heterochromatic regions within the human genome. HCM-FISH closes a gap in the now available mFISH probe sets, as those do not normally cover the acrocentric short arms; the large pericentric regions of chromosomes 1, 9, and 16; as well as the band Yq12. Still, these regions can be involved in different kinds of chromosomal rearrangements such as translocations, insertions, inversions, amplifications, and marker chromosome formations. Here, examples are given for all these kinds of chromosomal aberrations, detected as constitutional rearrangements in clinical cases. Application perspectives of the probe set in tumors as well as in evolutionary cytogenetic studies are given.

Publisher

SAGE Publications

Subject

Histology,Anatomy

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