RAPID DETECTION OF SEQUENCE POLYMORPHISMS IN THE HUMAN MITOCHONDRIAL-DNA CONTROL REGION BY POLYMERASE CHAIN-REACTION AND SINGLE-STRAND CONFORMATION ANALYSIS IN MUTATION DETECTION ENHANCEMENT GELS

The article describes a rapid approach for the detection of sequence p olymorphisms in the mitochondrial (mt)DNA control region that involves enzymatic amplification of each entire mtDNA control region (HV1 and HV2) and the subsequent analysis of the PCR products by single-strand conformation analysis (SSCA) in mutation detection enhancement (MDE) g els, followed by silver stain detection. HV1 and HV2 SSC reference lad ders were developed to standardize the classification of the different mtDNA types. Twenty-five mtDNA types were observed among the 45 Spani sh individuals analyzed: 11 types were observed in the HV1 region as c ompared with 10 types in the HV2 region. This mutation scanning strate gy could be a promising method of potential use not only in forensic g enetics but also in population and evolutionary studies.