title: A rapid, reliable, and inexpensive method for detection of di- and trinucleotide repeat markers and disease loci from dried blood spots.
abstract: We used a rapid and inexpensive method for studying the FMR1 CGG-repeat from dried blood spots, prepared from heel pricks, finger pricks, or an aliquot of blood from a venipuncture. The procedure includes a single tube for preparation of template DNA for PCR and minimal handling, avoiding opportunities for mislabelling specimens and loss of template. We extended the protocol to numerous di- and trinucleotide repeat markers and disease loci, including FRAXE, FRAXF, DXS548, DRPLA, and ZFY. The use of a highly reliable and very inexpensive method which employs blood spots as a source for target DNA means that newborn Guthrie cards can be used to establish allele frequencies for linkage disequilibrium studies, that large populations can be screened for genetic disorders, and that mapping studies can proceed rapidly even when only small amounts of blood are available from key family members.
authors.affiliation: Department of Psychiatry, Queen's University, Kingston, Ontario, Canada.
authors.forename: J J
authors.initials: JJ
authors.lastname: Holden
authors.forename: M
authors.initials: M
authors.lastname: Chalifoux
authors.forename: M
authors.initials: M
authors.lastname: Wing
authors.forename: C
authors.initials: C
authors.lastname: Julien-Inalsingh
authors.forename: B N
authors.initials: BN
authors.lastname: White
mesh_terms: D001483:Base Sequence; D001800:Blood Specimen Collection / Q000379:methods; D018900:Dinucleotide Repeats; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D018895:Microsatellite Repeats; D009419:Nerve Tissue Proteins / Q000097:blood / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D016601:RNA-Binding Proteins; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D018911:Trinucleotide Repeats
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D005819:Genetic Markers; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human