A rapid, reliable, and inexpensive method for detection of di- and trinucleotide repeat markers and disease loci from dried blood spots
✍ Scribed by Holden, Jeanette J. A.; Chalifoux, Maryse; Wing, Maggie; Julien-Inalsingh, Colin; White, Bradley N.
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 564 KB
- Volume
- 64
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
✦ Synopsis
We used a rapid and inexpensive method for studying the FMRl 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.