2008 Barcelona - European Society of Human Genetics

Genomics, technology, bioinformatics 00
compromised base pairing or even generation of single-stranded DNA
molecules . Various lesions in DNA can happen in vivo and in vitro . We
have observed extensive damage to DNA due to various types of lesions
formed in vitro upon storage of biosamples and under conditions
simulating various laboratory procedures . These lesions in the original
samples influence the efficiency and quality of complex molecular
procedures such as quantitative amplifications and random labelling
reactions . 2D Strandness-Dependent Electrophoresis can also be
used to assess efficiency of cDNA synthesis, a critical step in genomic
expression studies . Typical yield of double-stranded DNA is again very
variable reflecting the poor control of such a complex procedure. To
make these techniques easily available to investigators, BioCule Inc . is
marketing a dedicated automated instrument using 2D microgels .
P08.22
the acidic environment as essential attribute for the DNA
functioning
T. M. Partskhaladze, T. J. Mdzinarashvili, T. I. Lomidze;
Tbilisi State University, Tbilisi, Georgia.
Experimental results were obtained that give the possibility to conjecture
mechanisms by which the proteins (RNA polymerases) carry out
promoter melting, which is important step in transcription process . We
suppose that process of melting (opening of specific sites of ds-DNA)
is induced by acting of acidic residues enriched regions of proteins . Experimental
investigations of the DNA molecule in acidic environmental
condition unambiguously have indicate that acidic area (pH22 .000 U/L .
Analysis of the dystrophin gene by multiplex PCR excluded deletions .
MLPA showed a single amplification of the exon 2 of the dystrophin
gene . Surprisingly, calculation of the MLPA data revealed the presence
of 4 to 5 copies of the exon 2. To validate this finding quantitative
real-time PCR was performed giving also evidence for 4 to 5 copies
of exon 2
MLPA testing of the patients mothers demonstrated that the amplification
was de novo .
To identify the exact range of the amplification a new approach by
oligo-array-CGH was conceived . Shortly, a customer-designed 44k