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Complement C4 Gene Copy Number Variation Genotyping by High Resolution Melting PCR

Claudia P Jaimes-Bernal1,2, Monte Trujillo3, Francisco José Márquez1

  • 1Immunogenetics Unit, Department of Experimental Biology, Universidad de Jaén, 23071 Jaén, Spain.

International Journal of Molecular Sciences
|September 4, 2020
PubMed

Insights

This study developed a simplified assay to quantify complement C4 gene copy number variations (CNVs), crucial for understanding susceptibility to diseases like lupus and schizophrenia.

Area of Science:

  • Genetics
  • Molecular Biology

Background:

  • Complement C4 gene copy number variation (CNV) is linked to susceptibility in autoimmune diseases like lupus, schizophrenia, and rheumatoid arthritis.
  • Accurate quantification of C4 CNVs is essential for understanding disease pathogenesis and genetic risk.

Purpose of the Study:

  • To develop and validate a novel assay for quantifying complement C4 gene copy number variations.
  • To simplify the diagnostic process for C4 CNV.

Main Methods:

  • The assay utilizes gene ratio analysis copy enumeration (GRACE) PCR combined with high-resolution melting (HRM) PCR.
  • Optimization involved samples with known genotypes, followed by validation using 72 DNA samples from healthy donors.

Main Results:

  • Standard curves were generated by plotting C4/RP1 ratio values against copy number variation (CNV) for each gene.
  • The observed range of C4 copy numbers in control individuals aligns with previous findings in European populations.

Conclusions:

  • The developed method offers a significant simplification for diagnosing complement C4 copy number variations.
  • This assay facilitates more accessible and efficient C4 CNV analysis.
Abstract

Keywords:
DNA copy number variationscomplement C4copy number variation (CNV)real-time polymerase chain reaction

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