Published:Journal of Chromatographic Science,
ISSN 0021-9665 Volume
48, Number 1, January 2010, pp. 55-58
Evaluation of IP-RP-HPLC for Length Determination
of the Trinucleotide Repeat Fragments in Huntington’s Disease
Marzena Skrzypczak, Wolfram Heinritz, Anna M. Schulz,
Marek Mierzejewski, and Ursula G. Froster
Institute of Human Genetics, University of Leipzig, Philipp-Rosenthal-Str.
55, 04103 Leipzig, Germany
Expansion of an unstable trinucleotide (CAG)n
repeat region within exon 1 of the gene IT15 causes
autosomal, dominantly inherited Huntington’s disease (HD).
The number of CAG-repeats varies from 6 to 35 in normal individuals,
whereas in affected patients the expanded allele contains 40
or more CAG-repeats. Thus, exact determination of both alleles
of the gene (normal and expanded) on the molecular level is of
great importance for clinical diagnosis and prognosis regarding
the course of the disease. In our study, we optimized and evaluated
a highly sensitive, automated, and economical molecular method
for length characterization of the trinucleotide fragment expansion
such as (CAG)n repeat region based on ion-pair reversed-phase
high-performance liquid chromatography (IP-RP-HPLC). We found
that IP-RP-HPLC can be used for exact fragment length measuring
between 60–280 bp as a sensitive and advantageous alternative
method to conventional techniques.
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