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Detection of Genetic Rearrangements in the Regulators of Complement Activation RCA Cluster by High-Throughput Sequencing and MLPA.
- Source :
-
Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2021; Vol. 2227, pp. 159-178. - Publication Year :
- 2021
-
Abstract
- The regulators of complement activation (RCA) gene cluster in 1q31-1q32 includes most of the genes encoding complement regulatory proteins. Genetic variability in the RCA gene cluster frequently involve copy number variations (CNVs), a type of chromosome structural variation causing alterations in the number of copies of specific regions of DNA. CNVs in the RCA gene cluster often relate with gene rearrangements that result in the generation of novel genes, carrying internal duplications or deletions, and hybrid genes, resulting from the fusion or exchange of genetic material between two different genes. These gene rearrangements are strongly associated with a number of rare and common diseases characterized by complement dysregulation. Identification of CNVs in the RCA gene cluster is critical in the molecular diagnostic of these diseases. It can be done by bioinformatics analysis of DNA sequence data generated by massive parallel sequencing techniques (NGS, next generation sequencing) but often requires special techniques like multiplex ligation-dependent probe amplification (MLPA). This is because the currently used massive parallel DNA sequencing approaches do not easily identify all the structural variations in the RCA gene cluster. We will describe here how to use the MLPA assays and two computational tools to analyze NGS data, NextGENe and ONCOCNV, to detect CNVs and gene rearrangements in the RCA gene cluster.
- Subjects :
- Chromosome Aberrations
Complement Activating Enzymes genetics
Complement Pathway, Alternative genetics
Complement Pathway, Classical genetics
Complement System Proteins genetics
DNA Copy Number Variations
Gene Rearrangement
Genetic Testing methods
Humans
Multigene Family genetics
Sequence Analysis, DNA
Complement Activation genetics
DNA Mutational Analysis methods
High-Throughput Nucleotide Sequencing methods
Multiplex Polymerase Chain Reaction methods
Subjects
Details
- Language :
- English
- ISSN :
- 1940-6029
- Volume :
- 2227
- Database :
- MEDLINE
- Journal :
- Methods in molecular biology (Clifton, N.J.)
- Publication Type :
- Academic Journal
- Accession number :
- 33847941
- Full Text :
- https://doi.org/10.1007/978-1-0716-1016-9_16