DETECTION OF 2 HYPERVARIABLE (ATTTT)N LOCI IN THE HUMAN GENOME

Object of this investigation was the isolation of a single-locus probe from a multi-locus fingerprint. Individual specific multi-locus finge rprints in man were generated by using the oligonucleotide probe (ATTT T)5. An isolated (ATTTT)S-positive DNA fragment was analyzed using pol ymerase chain reaction (PCR) cycle-sequencing and nonradioactive direc t-blotting electrophoresis. A digoxigenated oligonucleotide synthesize d according to this sequence was used as a single-locus probe. Two hyp ervariable loci were detected on Southern blots. Formal genetic invest igations for the two loci were performed in order to estimate the alle le frequencies. Locus 1 shows an individual-specific banding pattern w ith an autosomal-codominant inheritance and can be used for forensic i nvestigations. Locus 2 also represents a polymorphic pattern, but the inheritance is not according to the Mendelian rules. Probably we have detected a highly mutagenic locus in the human genome.