ISSN: 0022-1198
CODEN: JFSCA
Page Count: 22

Detection of Sequence Variation in the HVII Region of the Human Mitochondrial Genome in 689 Individuals Using Immobilized Sequence-Specific Oligonucleotide Probes
Clark, E
DNA Laboratory, CA

Erlich, H
Human Genetics Department, Roche Molecular Systems, Inc., CA

Varlaro, J
Boston Police, Crime Laboratory Unit, MA

Walker, K
Human Genetics Department, Roche Molecular Systems, Inc., CA

Alavaren, M
Mosaic Technologies, Inc., MA

Allen, M

Reynolds, R
Human Genetics Department, Roche Molecular Systems, Inc., CA

(Received 1 April 1999; accepted 24 January 2000)

Abstract

We have developed a rapid, immobilized probe-based assay for the detection of sequence variation in the hyper-variable segment II (HVII) of the mitochondrial DNA (mtDNA) control region. Using a panel of 17 sequence-specific oligonucleotide (SSO) probes immobilized on nylon membrane strips, we typed 689 individuals from four population groups. The genetic diversity value for each population was calculated from the frequency data, and the frequencies of distinct “mitotypes” in each group were determined. We performed DNA sequence analysis of 129 samples to characterize the sequences associated with “blanks” (absence of probe signals) and weak probe signals. Out of 689 samples, we observed five heteroplasmic samples (excluding the variable C-stretch beginning at position 303) using the immobilized SSO probe panel. The SSO probe strips were used for the analysis of shed hairs and bloodstains from several criminal cases in Sweden, one of which is described here. We conclude that this mtDNA typing system is useful for human identification and significantly decreases casework turnaround time.

Keywords:
forensic science, mitochondrial DNA, HVII, immobilized sequence-specific oligonucleotide probes, DNA typing—human

Paper ID: JFS14870J
DOI: 10.1520/JFS14870J
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