BACKGROUND: As for @entity1577 ( @entity1577 ) and many other @entity74 there is still a lack in understanding the relationship between genetic (e.g. allelic) and phenotypic diversity. Therefore methods which allow fine quantification of allelic proportions of mRNA transcripts are of high importance. METHODS: We used either genomic DNA (gDNA) or total RNA extracted from nasal cells as starting nucleic acid template for our assay. The subjects included in this study were 9 @entity1577 @entity1 compound heterozygous for the @entity30936 mutation and each one @entity30936 homozygous and one wild type homozygous respectively. We established a novel ligation based quantification method which allows fine quantification of the allelic proportions of ss and ds @entity5174 cDNA. To verify reliability and accuracy of this novel assay we compared it with semiquantitative fluorescent PCR (SQF-PCR). RESULTS: We established a novel assay for allele specific quantification of gene expression which combines the benefits of the specificity of the ligation reaction and the accuracy of quantitative real-time PCR. The comparison with SQF-PCR clearly demonstrates that LASQ allows fine quantification of allelic proportions. CONCLUSION: This assay represents an alternative to other fine quantitative methods such as ARMS PCR and Pyrosequencing.

Ligation dependent allele specific quantification (LASQ) of XXXX cDNA on the LightCycler using MLPA hybridization probes.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity5174 :: ('1080', 'Gene') :: ['CFTR'] @entity30936 :: ('p|DEL|508|F', 'DNAMutation') :: ['F508del'] @entity74 :: ('MESH:D030342', 'Disease') :: ['hereditary diseases'] @entity1577 :: ('MESH:D003550', 'Disease') :: ['CF', 'Cystic Fibrosis']
@entity5174 :: (1080,Gene) :: ['CFTR']
