RAPID APOLIPOPROTEIN-E GENOTYPING FROM MAILED BUCCAL SWABS

Genetic polymorphism of apolipoprotein E (apoE) is linked with the ris k of cardiovascular and Alzheimer's disease (AD). We determined apoE g enotypes from mailed buccal cell swabs in 36 healthy individuals and 1 8 demented patients suffering from AD. DNA was released from the swabs by a rapid lysis technique. Polymerase chain reaction using 'hot star t' and restriction enzyme digestion by HhaI was used for genotyping of apoE alleles, which were detected by polyacrylamide or MetaPhor agaro se gel. ApoE genotypes determined from buccal cells or from stored leu cocytes were identical to previously done phenotyping. An advantage of the present simplified buccal cell collection procedure is the possib ility to collect DNA samples for apoE genotyping rapidly by mail from patients visiting their physician geographically distant from research laboratory. Moreover, venepuncture and storing of the samples in refr igerators are avoided and costs are reduced. This non-invasive and pai nless method is also applicable to other genetic screening tests in ri sk populations. (C) 1998 Elsevier Science B.V.