Hereditary Neuralgic Amyotrophy (HNA), also known as Brachial Plexus
Neuropathy, is a rare hereditary disease that is characterized by recurrent episodes of
severe arm and shoulder pain accompanied by muscle weakness, nerve deterioration,
and sensory impairment of the nerves in the arm. Linkage studies have shown that
HNA is an autosomal dominant disorder caused by a genetic defect localized to the
long arm of the seventeenth chromosome between the 24th and 25th band (17q24-
17q25). Detection of specific target nucleic acid sequences is commonly achieved by
hybridization of fluorescently labeled oligonucleotide probe(s) to a complementary
target sequence. We report the first use of excimer-based split-probes for detection of
the wild type and mutant alleles of Hereditary Neuralgic Amyotrophy. A tandem 15-
mer split DNA oligonu-cleotide probe system was designed that allows detection of
the complementary target DNA sequence. This excimer-based fluorescence detector
system operates by means of a contiguous hybridization of two oligonucleotide
excimer split-probes to a complementary target nucleic acid target. Each probe
oligonucleotide is chemically modified at one of its termini by a potential eximerforming partner, each of which is fluorescently silent at the wavelength of detection.
Under conditions that ensure correct three-dimensional assembly, the chemical
moieties on suitable photoexcitation form an eximer that fluoresces with a large
Stokes shift (in this case 130 nm). The excimer system was able to differentiate wild
type and mutated SNP (835 A→G) alleles, based on fluorescence emission spectra
indicating promise for future applications in genetic testing and molecular
diagnostics.
Keywords: Excimer, pyrene, Hereditary Neuralgic Amyotrophy