A technical poster from Fluidigm
Europe entitled 'Rapid single-molecule haplotyping in patients with sickle cell
disease' reports upon the pioneering work of Dr Stephen Menzel and his fellow
researchers at Kings College (London), School of Medicine.
Sickle cell disease is a devastating genetic condition caused by mutation of
the beta globin gene on chromosome 11p. Genetic variation elsewhere can lead
to a milder form of the disease. One such modifier locus has been mapped to
the intergenic region between HBS1L and MYB (HMIP) on chromosome 6q23.3. This
new locus is dominated by a 24-kb haplotype block (HMIP-2) characterised by
11 SNPs. To identify the causitive varient within HMIP-2, the researchers used
a Fluidigm BioMark™ System and Digital Array™ Integrated Fluidic
Circuit (IFC) technology to investigate the SNP haplotypes in a series of West
African and African/European patients.
The Kings College researchers found that Fluidigm digital arrays can be easily
adapted to SNP haplotyping. Applying digital array haplotyping the researchers
were able to phase three SNP markers at a modified locus for sickle cell disease.
Further work using the Fluidigm BioMark System and Digital Arrays IFC's to extend
and further characterise the African haplotypes will help identify the causitive
genetic varients at this locus.
A copy of poster is available free to download from http://www.fluidigm.com/pdf/posters/FLDM_MRKT00122.pdf
The Fluidigm BioMark System uses IFC technology to reduce complexity, improve
throughput with nanolitre precision and provide significant cost-savings (less
reagent and smaller samples) for high-throughput PCR applications. The research
described on this poster used the Fluidigm 12.765 Digital Array, a unique IFC
that employs a network of integrated channels and valves to divide a mixture
of sample and PCR reagents into 765 replicates. The chip is specially designed
to quantify target sequences very accurately and to detect low-abundance targets
that differ by only a base-pair from the wild-type sequence. With conventional
assays these targets may be otherwise difficult to detect in the sample as a
whole. Fluidigm also offers a 48.770 Digital Array IFC that is capable of testing
up to 48 individual samples at a time and automatically partitioning each of
the samples into separate sets of 770 reaction chambers - delivering a total
of 36,960 simultaneous digital PCR reactions.
Fluidigm develops, manufactures and markets proprietary Integrated Fluidic
Circuit (IFC) systems that significantly improve productivity in life science
research. Fluidigm's IFCs enable the simultaneous performance of thousands of
sophisticated biochemical measurements in extremely minute volumes. These "integrated
circuits for biology" are made possible by miniaturising and integrating
liquid handling components on a single microfabricated microfluidic device.
Fluidigm's IFC systems, consisting of instrumentation, software and single-use
IFCs, increase throughput, decrease costs and enhance sensitivity compared to
conventional laboratory systems. Fluidigm products have not been cleared or
approved by the Food and Drug Administration for use as a diagnostic and are
only available for research use.