A novel procedure for genotyping of single nucleotide polymorphisms in trisomy with genomic DNA and the invader assay.

ABSTRACT: Individuals with trisomy 21 display complex phenotypes with differing degrees of severity. Numerous reliable methods have been established to diagnose the initial trisomy in these patients, but the identification and characterization of the genetic basis of the phenotypic variation in individuals with trisomy remains challenging. To date, methods that can accurately determine genotypes in trisomic DNA samples are expensive, require specialized equipment and complicated analyses. Here we report proof-of-concept results for an Invader(R) assay-based genotyping procedure that can determine SNP genotypes in trisomic genomic DNA samples in a simple and cost-effective manner. The procedure requires only two experimental steps: a real-time measurement of the fluorescent Invader(R) signal and anal

SUBMITTER: Duffy KJ 

PROVIDER: S-EPMC2602776 | biostudies-literature | 2008 Dec

REPOSITORIES: biostudies-literature