How to narrow down chromosomal breakpoints in small and large derivative chromosomes – a new probe set

• Autorzy: Hamid A. B. , Kreskowski K. , Weise A. , Kosayakova N. , Mrasek K. , Voigt M. , Santos Guilherme R. , Wagner R. , Hardekopf D. , Pekova S. , Karamysheva T. , Liehr T. , Klein E.
• Języki publikacji: EN

Abstrakty

EN

Here a new fluorescence in situ hybridization (FISH-) based probe set is presented and its possible applications are highlighted in 34 exemplary clinical cases. The so-called pericentric-ladder-FISH (PCL-FISH) probe set enables a characterization of chromosomal breakpoints especially in small supernumerary marker chromosomes (sSMC), but can also be applied successfully in large inborn or acquired derivative chromosomes. PCL-FISH was established as 24 different chromosome-specific probe sets and can be used in two- up multicolor-FISH approaches. PCL-FISH enables the determination of a chromosomal breakpoint with a resolution between 1 and ∼10 megabasepairs and is based on locus-specific bacterial artificial chromosome (BAC) probes. Results obtained on 29 sSMC cases and five larger derivative chromosomes are presented and discussed. To confirm the reliability of PCL-FISH, eight of the 29 sSMC cases were studied by array-comparative genomic hybridization (aCGH); the used sSMC-specific DNA was obtained by glass-needle based microdissection and DOP-PCR-amplification. Overall, PCL-FISH leads to a better resolution than most FISH-banding approaches and is a good tool to narrow down chromosomal breakpoints.

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2012
• Tom: 53
• Numer: 3
• Opis fizyczny: p.259-269,fig.,ref.

Twórcy

autor

Hamid A. B.

• Institute of Human Genetics, Jena University Hospital, Kollegiengasse 10, 07743 Jena, Germany

autor

Kreskowski K.

autor

Weise A.

autor

Kosayakova N.

autor

Mrasek K.

autor

Voigt M.

autor

Santos Guilherme R.

autor

Wagner R.

autor

Hardekopf D.

autor

Pekova S.

autor

Karamysheva T.

autor

Liehr T.

autor

Klein E.

Uwagi

PL

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