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Complement C4 Gene Copy Number Variation Genotyping by High Resolution Melting PCR.
Jaimes-Bernal, Claudia P; Trujillo, Monte; Márquez, Francisco José; Caruz, Antonio.
Afiliación
  • Jaimes-Bernal CP; Immunogenetics Unit, Department of Experimental Biology, Universidad de Jaén, 23071 Jaén, Spain.
  • Trujillo M; Faculty of Health Sciences, Universidad de Boyacá, 150003 Tunja, Colombia.
  • Márquez FJ; Transfusion Blood Center, 23009 Jaen, Spain.
  • Caruz A; Immunogenetics Unit, Department of Experimental Biology, Universidad de Jaén, 23071 Jaén, Spain.
Int J Mol Sci ; 21(17)2020 Aug 31.
Article en En | MEDLINE | ID: mdl-32878183
BACKGROUND: Complement C4 gene copy number variation plays an important role as a determinant of genetic susceptibility to common diseases, such as systemic lupus erythematosus, schizophrenia, rheumatoid arthritis, and infectious diseases. This study aimed to develop an assay for the quantification of copy number variations in the C4 locus. METHODS: the assay was based on a gene ratio analysis copy enumeration (GRACE) PCR combined with high resolution melting (HRM) PCR. The test was optimized using samples of a known genotype and validated with 72 DNA samples from healthy blood donors. RESULTS: to validate the assay, standard curves were generated by plotting the C4/RP1 ratio values against copy number variation (CNV) for each gene, using genomic DNA with known C4 CNV. The range of copy numbers in control individuals was comparable to distributions observed in previous studies of European descent. CONCLUSIONS: the method herein described significantly simplifies C4 CNV diagnosis to validate the assay.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Complemento C4 / Reacción en Cadena de la Polimerasa / Predisposición Genética a la Enfermedad / Polimorfismo de Nucleótido Simple / Variaciones en el Número de Copia de ADN Límite: Humans Idioma: En Revista: Int J Mol Sci Año: 2020 Tipo del documento: Article País de afiliación: España

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Complemento C4 / Reacción en Cadena de la Polimerasa / Predisposición Genética a la Enfermedad / Polimorfismo de Nucleótido Simple / Variaciones en el Número de Copia de ADN Límite: Humans Idioma: En Revista: Int J Mol Sci Año: 2020 Tipo del documento: Article País de afiliación: España
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