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Clinical Chemistry 43: 18-23, 1997;
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(Clinical Chemistry. 1997;43:18-23.)
© 1997 American Association for Clinical Chemistry, Inc.

Articles

Development of reverse dot-blot system for screening of mitochondrial DNA mutations associated with Leber hereditary optic atrophy

Els Schollen, Petra Vandenberk, Jean-Jacques Cassiman and Gert Matthijsa

a Address correspondence to this author at: Center for Human Genetics, Gasthuisberg O&N6, Herestr. 49, B-3000 Leuven, Belgium. Fax 32-16-345997; e-mail gert.matthijs{at}med.kuleuven.ac.be

We developed a diagnostic test based on the reverse dot-blot principle, in which five mitochondrial point mutations responsible for Leber hereditary optic neuropathy (LHON) were screened simultaneously. A series of wild-type and mutant oligonucleotides representing each mutation were covalently bound to a single nylon membrane strip. The target sites were amplified in a multiplex PCR and the products were hybridized to the membrane. Detection is based on chemiluminescence. To test the developed assay, 47 patients suspected of having LHON were screened. In 11 cases (23%) the diagnosis of LHON could be confirmed (3460, 1; 9804, 1; 11778, 5; 14484, 3; 15257, 1). The results suggest that the clinical identification of the mitochondrial defect is not trivial and the availability of a rapid screening method simplifies the molecular analysis of these cases.


Key Words: indexing terms: inherited diseases • gene defects • point mutations • polymerase chain reaction • heteroplasmy




The following articles in journals at HighWire Press have cited this article:


Home page
 J. Mol. Diagn.Home page
S. Lappin, J. Cahlik, and B. Gold
Robot Printing of Reverse Dot Blot Arrays for Human Mutation Detection
J. Mol. Diagn., November 1, 2001; 3(4): 178 - 188.
[Abstract] [Full Text] [PDF]

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 Clin. Chem.Home page
L.-J. C. Wong and D. Senadheera
Direct detection of multiple point mutations in mitochondrial DNA
Clin. Chem., October 1, 1997; 43(10): 1857 - 1861.
[Abstract] [Full Text] [PDF]


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