High-Throughput Karyotyping Service
For Research Use Only
Our high-throughput karyotyping service enables:
Rapid detection of chromosomal aneuploidies in all 24 chromosomes.
Frequent monitoring of the genomic integrity of in cost-efficient and high-throughput manner.
Monitoring of chromosomal aneuploidies from low amount of genomic DNA (min. 50 ng).
Implemented for pluripotent cells, however, suitable for any other cell or tissue types of interest.
Genomic integrity of human pluripotent stem cell (hPSC) lines requires routine monitoring (1). In collaboration with
PerkinElmer Diagnostics we have implemented novel karyotyping assay (KaryoLite™ BoBs™) for pluripotent stem
cells, which utilizes bead-bound bacterial artificial chromosome probes distinguishable by the Luminex® instrument
(2, 3). The probes recognize the centromeres, p and q arms of chromosomes 1-22, X and Y, and q arms of
acrocentric chromosomes. The assay provides a fast tool for detection of chromosomal abnormalities in hPSC lines
from low amounts of genomic DNA isolated from whole cell or tissue pools. The method is also suitable for analysis
of other type of samples, such as placental tissue (4).
*Up to 96 samples can be processed in a single experiment.
For further information and placing an order, please contact: Dr. Riikka Lund
E-mail: [email protected]
Phone: +358-2-333 8094
www.btk.fi
A
B
The Figure illustrates detection threshold of mosaic trisomy 12. Human H9p35 embryonic stem cells with normal karyotype
were pooled in different proportions with H9p112 karyotypically abnormal cells carrying trisomy of chromosome 12 as indicated
in the figure. In the figure A are the karyotyping results based on analysis with KaryoLite™ BoBs™ assay. The red and blue lines
indicate chromosomal signal ratios against female (red) and male (blue) reference DNA with normal karyotypes as detected by
assay. For the normal chromosomes the both signals calculated against male and female references should reside inside the
reference around value 1, whereas for the abnormal karyotype both signals should be outside the reference area. The results
demonstrate that mosaic chromosomal abnormalities can be detected when at least present in 30% of the cells. In the Figure B
is the cytogenetic data for H9 line with karyotype 47,XX,+12. (2).
References:
1. Lund RJ, Närvä E, Lahesmaa R. Genetic and epigenetic stability of human pluripotent stem cells. Nat Rev Genet. 2012 Oct;13(10):732-44.
2. Lund and Nikula et al. High-throughput karyotyping of human pluripotent stem cells. Stem Cell Res. 2012 Jul 11;9(3):192-195.
3. http://www.perkinelmer.com/Catalog/Product/ID/4501-0010
4. Grati et al. Application of a new molecular technique for the genetic evaluation of products of conception. Prenat Diagn. 2012 Nov 20.