A RAPID, RELIABLE, AND INEXPENSIVE METHOD FOR DETECTION OF DINUCLEOTIDE AND TRINUCLEOTIDE REPEAT MARKERS AND DISEASE LOCI FROM DRIED BLOOD SPOTS

We used a rapid and inexpensive method for studying the FMR1 CGG-repea t from dried blood spots, prepared from heel pricks, finger pricks, or an aliquot of blood from a venipuncture. The procedure includes a sin gle tube for preparation of template DNA for PCR and minimal handling, avoiding opportunities for mislabelling specimens and loss of templat e. We extended the protocol to numerous di- and trinucleotide repeat m arkers and disease loci, including FRAXE, FRAXF, DXS548, DRPLA, and ZF Y. The use of a highly reliable and very inexpensive method which empl oys blood spots as a source for target DNA means that newborn Guthrie cards can be used to establish allele frequencies for linkage disequil ibrium studies, that large populations can be screened for genetic dis orders, and that mapping studies can proceed rapidly even when only sm all amounts of blood are available from key family members. (C) 1996 W iley-Liss, Inc.