Journal article
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, …
Authors
Holden JJA; Chalifoux M; Wing M; Julien‐Inalsingh C; White BN
Journal
American Journal of Medical Genetics, Vol. 64, No. 2, pp. 313–318
Publisher
Wiley
Publication Date
August 9, 1996
DOI
10.1002/(sici)1096-8628(19960809)64:2<313::aid-ajmg16>3.0.co;2-i
ISSN
0148-7299
Associated Experts
Fields of Research (FoR)
Medical Subject Headings (MeSH)
Base SequenceBlood Specimen CollectionDinucleotide RepeatsFemaleFragile X Mental Retardation ProteinFragile X SyndromeGenetic MarkersHumansInfant, NewbornMaleMicrosatellite RepeatsNerve Tissue ProteinsPolymerase Chain ReactionRNA-Binding ProteinsReproducibility of ResultsSensitivity and SpecificityTrinucleotide Repeats