Validation of single nucleotide polymorphism quantification in pooled DNA samples with SNaPIT. A glycosylase-mediated methods for polymorphism detection method.
Association studies using genome scans to identify quantitative trait loci for multifactorial disorders, with anything approaching reasonable power, have been compromised by the need for a very dense array of genetic markers and large numbers of affected individuals. These requirements impose enormous burdens on the genotyping capacity for most laboratories. DNA pooling has been proposed as a possible approach to reduce genotyping costs and effort. We report on the application of the SNaPIT technology to evaluate allele frequencies in pooled DNA samples and conclude that it offers a cost effective, efficient and accurate estimator and provides several advantages over competing technologies in this regard.
Curran
Sarah
S
S.G.D.P. Research Centre, Institute of Psychiatry, Box Pobo, De Crespigny Park, Denmark Hill, London SE5 8AF, UK. s-curran@iop.kcl.ac.uk
Hill
Linzy
L
O'Grady
Geraldine
G
Turic
Dragana
D
Asherson
Philip
P
Taylor
Eric
E
Sham
Pak
P
Craig
Ian
I
Vaughan
Pat
P
D002874:Chromosome Mapping / Q000379:methods; D004247:DNA / Q000032:analysis / Q000235:genetics* / Q000378:metabolism*; D045647:DNA Glycosylases; D004252:DNA Mutational Analysis / Q000379:methods*; D005787:Gene Frequency / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D009699:N-Glycosyl Hydrolases / Q000378:metabolism*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D016415:Sequence Alignment
D004247:DNA; D045647:DNA Glycosylases; D009699:N-Glycosyl Hydrolases