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Updated: Sep 29, 2026

VDJ-Seq: Deep Sequencing Analysis of Rearranged Immunoglobulin Heavy Chain Gene to Reveal Clonal Evolution Patterns of B Cell Lymphoma
Published on: December 28, 2015
Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's
D Marchant1, K Gogat, P Dureau
1Centre de recherche thérapeutique en ophtalmologie, équipe d'accueil 2502 MENRT, Université René Descartes Paris V, Faculté de Médecine Necker-Enfants Malades, Paris, France.
Abstract:
We identified three novel VMD2 mutations in patients with Best's macular dystrophy. DHPLC analysis of the 11 VMD2 exons revealed abnormal profiles in exon 8. Direct sequencing showed that these abnormal profiles were due to monoallelic transitions and transversions. We also found three polymorphic sequence changes that have been reported previously and annotated to an online database (http://www.uni-wuerzburg.de/humangenetics/vmd2.html).

