Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA
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Published on: May 28, 2017
Øystein L Holla1, Christél Teie, Knut Erik Berge
1Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet, N-0027 Oslo, Norway.
Background:
Familial hypercholesterolemia (FH) is caused by mutations in the low density lipoprotein (LDL) receptor gene. In this study we have compared multiplex ligation-dependent probe amplification (MLPA) and long-range PCR to detect large deletions/duplications in the LDL receptor gene.
Method:
DNA from 431 unrelated FH patients without mutations in the LDL receptor gene detectable by DNA sequencing and who had total serum cholesterol levels above 10.0 mmol/l, was subjected to analyses by MLPA and by five long-range PCRs.
Result:
Eleven deletions and two duplications were detected by MLPA. Six of the deletions and one of the duplications were also detected by long-range PCR. A total of 44 of the 431 (10.2%) FH patients possessed a deletion or a duplication.
Conclusion:
MLPA has a higher sensitivity than five long-range PCRs to detect large deletions/duplications in the LDL receptor gene. Even though the direct cost of MLPA is twice that of five long-range PCRs, it has replaced long-range PCR for routine diagnostics in our laboratory because of the higher sensitivity and the 30-50% reduction in hands-on time.
