Novel Sequencing-based Strategies for High-Throughput Discovery of Genetic Mutations Underlying Inherited Antibody Deficiency Disorders


DOI: 10.1007/s11882-011-0211-x

Cite this article as:
Wang, HY. & Jain, A. Curr Allergy Asthma Rep (2011) 11: 352. doi:10.1007/s11882-011-0211-x


Human inherited antibody deficiency disorders are generally caused by mutations in genes involved in the pathways regulating B-cell class switch recombination; DNA damage repair; and B-cell development, differentiation, and survival. Sequencing a large set of candidate genes involved in these pathways appears to be a highly efficient way to identify novel mutations. Herein we review several high-throughput sequencing approaches as well as recent improvements in target gene enrichment technologies. Systematic improvement of enrichment and sequencing methods, along with refinement of the experimental process is necessary to develop a cost-effective high-throughput resequencing assay for a large cohort of patient samples. The Hyper-IgM/CVID chip is one example of a resequencing platform that may be used to identify known or novel mutations in patents with various types of inherited antibody deficiency.


High-throughput sequencing Microarray Next-generation sequencing Target sequence enrichment Sequence capture by hybridization PCR Cost-effective Assay development 

Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  1. 1.Laboratory of Host Defenses, National Institute of Allergy and Infectious DiseasesNational Institutes of HealthBethesdaUSA

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