title: High microsatellite and SNP genotyping success rates established in a large number of genomic DNA samples extracted from mouth swabs and genotypes.
abstract: In this article, we present the genomic DNA yield and the microsatellite and single nucleotide polymorphism (SNP) genotyping success rates of genomic DNA extracted from a large number of mouth swab samples. In total, the median yield and quality was determined in 714 individuals and the success rates in 378,480 genotypings of 915 individuals. The median yield of genomic DNA per mouth swab was 4.1 microg (range 0.1-42.2 microg) and was not reduced when mouth swabs were stored for at least 21 months prior to extraction. A maximum of 20 mouth swabs is collected per participant. Mouth swab samples showed in, respectively, 89% for 390 microsatellites and 99% for 24 SNPs a genotyping success rate higher than 75%. A very low success rate of genotyping (0%-10%) was obtained for 3.2% of the 915 mouth swab samples using microsatellite markers. Only 0.005% of the mouth swab samples showed a genotyping success rate lower than 75% (range 58%-71%) using SNPs. Our results show that mouth swabs can be easily collected, stored by our conditions for months prior to DNA extraction and result in high yield and high-quality DNA appropriate for genotyping with high success rate including whole genome searches using microsatellites or SNPs.
authors.affiliation: Molecular Epidemiology, Leiden University Medical Centre, Leiden, the Netherlands. j.min@lumc.nl
authors.forename: Josine L
authors.initials: JL
authors.lastname: Min
authors.forename: Nico
authors.initials: N
authors.lastname: Lakenberg
authors.forename: Margreet
authors.initials: M
authors.lastname: Bakker-Verweij
authors.forename: Eka
authors.initials: E
authors.lastname: Suchiman
authors.forename: Dorret I
authors.initials: DI
authors.lastname: Boomsma
authors.forename: P Eline
authors.initials: PE
authors.lastname: Slagboom
authors.forename: Ingrid
authors.initials: I
authors.lastname: Meulenbelt
mesh_terms: D005260:Female; D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D008297:Male; D008403:Mass Screening; D018895:Microsatellite Repeats / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D013048:Specimen Handling / Q000379:methods