Fluidigm's Biomark system and digital array integrated fluidic circuit (IFC) technology has been used by researchers at King's College London for rapid single-molecule haplotyping.
A technical poster, entitled 'Rapid Single-Molecule Haplotyping in Patients with Sickle Cell Disease', reports on the work of Dr Stephen Menzel and his fellow researchers at King's College London's School of Medicine.
Sickle cell disease is a 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 HBSIL and MYB (HMIP) on chromosome 6q23.3.
This locus is dominated by a 24kb haplotype block (HMIP-2) characterised by 11 SNPs.
To identify the causative variant within HMIP-2, the researchers used a Fluidigm Biomark system and digital array IFC technology to investigate the SNP haplotypes in a series of west African and African/European patients.
The King's 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 IFCs to extend and further characterise the African haplotypes will help identify the causative genetic variants at this locus.
A copy of the poster is available to download from Fluidigm's website.
