Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Obenauf, AC; Schwarzbraun, T; Auer, M; Hoffmann, EM; Waldispuehl-Geigl, J; Ulz, P; Günther, B; Duba, HC; Speicher, MR; Geigl, JB.
Mapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes.
J Cell Mol Med. 2010; 14(8):2078-2084
Doi: 10.1111/j.1582-4934.2010.01116.x
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- Führende Autor*innen der Med Uni Graz
- Geigl Jochen Bernd
- Obenauf Anna Christina
- Co-Autor*innen der Med Uni Graz
- Auer Martina
- Hoffmann Eva Maria
- Schwarzbraun Thomas
- Speicher Michael
- Ulz Peter
- Waldispühl-Geigl Julie
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- Abstract:
- The analysis of structural variants associated with specific phenotypic features is promising for the elucidation of the function of involved genes. There is, however, at present no approach allowing the rapid mapping of chromosomal translocation breakpoints to the basepair level from a single chromosome. Here we demonstrate that we have advanced both the microdissection and the subsequent unbiased amplification to an extent that breakpoint mapping to the basepair level has become possible. As a case in point we analysed the two breakpoints of a t(7;13) translocation observed in a patient with split hand/foot malformation (SHFM1). The amplification products of the der(7) and of the der(13) were hybridized to custom-made arrays, enabling us to define primers at flanking breakpoint regions and thus to fine-map the breakpoints to the basepair level. Consequently, our results will also contribute to a further delineation of causative mechanisms underlying SHFM1 which are currently unknown.
- Find related publications in this database (using NLM MeSH Indexing)
- Base Sequence -
- Chromosome Banding -
- Chromosome Breakpoints -
- Chromosome Mapping - methods
- Chromosomes, Human, Pair 13 - genetics
- Chromosomes, Human, Pair 7 - genetics
- Comparative Genomic Hybridization -
- DNA Mutational Analysis -
- Foot Deformities, Congenital - genetics
- Hand Deformities, Congenital - genetics
- Homeodomain Proteins - genetics
- Humans -
- Infant -
- Lasers -
- Male -
- Microdissection - methods
- Proteasome Endopeptidase Complex - genetics
- Transcription Factors - genetics
- Translocation, Genetic -
- Find related publications in this database (Keywords)
- breakpoint mapping
- chromosome translocation
- monogenic disease
- unbiased amplification
- oligonucleotide arrays
- split hand
- foot malformation