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Clinical Chemistry 43: 1857-1861, 1997;
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(Clinical Chemistry. 1997;43:1857-1861.)
© 1997 American Association for Clinical Chemistry, Inc.

Articles

Direct detection of multiple point mutations in mitochondrial DNA

Lee-Jun C. Wonga and Dinithi Senadheera

a Author for correspondence. Fax 213-666-0489; e-mail lcwong{at}hsc.usc.edu

Mitochondrial defects can be caused by mutations in nuclear or mitochondrial DNA. Large deletion/duplication and point mutations are the two major types of mitochondrial DNA (mtDNA) mutations. Comprehensive molecular diagnosis requires the analysis of multiple point mutations. We developed an effective multiplex PCR/allele-specific oligonucleotide (ASO) method to simultaneously screen multiple point mutations in mtDNA. The system involved three pairs of primers to amplify mutation "hot spots" at tRNAleu(UUR), tRNAlys/ATPase, and ND4 regions, followed by detection of point mutations with ASO probes. Over 2000 specimens were analyzed and the results were compared with those from previous studies with the PCR/restriction fragment length polymorphism method. Our data demonstrate that the multiplex PCR/ASO method is much more sensitive in the detection of low mutant heteroplasmy. It is simple and cost effective, especially if a large number of samples are to be screened for multiple point mutations.




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Copyright © 1997 by the American Association for Clinical Chemistry.