Gene Copy Number Quantification of SHOX , VAMP7 , and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates

ibarra-Ramírez, Marisol y Lugo-Trampe, José de Jesús y Campos Acevedo, Luis Daniel y Zamudios Osuna, Michelle y Torres Muñoz, Iris Carmen y Gómez Puente, Viviana y García Castañeda, Gloria y Arredondo Vázquez, Patricia y Rodríguez Sánchez, Irám Pablo y Schaeffer, Satu Elisa y Velasco Sepúlveda, Braulio Hernán y Villarreal Pérez, Jesús Zacarías y Martínez de Villarreal, Laura Elia (2020) Gene Copy Number Quantification of SHOX , VAMP7 , and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates. Genetic testing and molecular biomarkers, 24 (6). pp. 1-7. ISSN 1945-0257

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URL o página oficial: DOI: 10.1089/gtmb.2019.0226

Resumen

Aims: To explore the feasibility of detecting sex chromosome aneuploidies (SCAs) by means of gene copy number quantification of short stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY in newborns. Materials and Methods: Gene doses of SHOX, VAMP7, and SRY were determined by quantitative polymerase chain reaction (qPCR) using DNA obtained from dried blood samples from newborns. Relative quantification values were obtained. An aneuploidy profile was established according to cutoff values. Samples with ≥2 gene doses (out of range) were reanalyzed, and those with aneuploidy profiles were confirmed by karyotyping. Sensitivity, specificity, and positive and negative predictive values were obtained. Results: A total of 10,033 samples were collected (4945 females and 5088 males). Of 244 (2.43%) samples with ≥2 gene doses that were retested, 20 cases were confirmed. The overall incidence of SCAs was 1 in 500 live newborns. There were six cases of Turner syndrome (1/824), 3 cases of XXX (1/1648), 7 cases of Klinefelter syndrome (1/726), and 4 cases of of XYY (1/1272). The sensitivity was 0.952 (95.24%), specificity of 0.975 (97.56%), positive predictive value of 0.909 (90.91%), and negative predictive value of 0.987 (98.77%). Conclusions: Gene copy number analyses of VAMP7, SHOX, and SRY genes by qPCR from blood samples spotted onto filter paper is a highly reliable method for the early detection of male and female SCAs.

Tipo de elemento: Article
Palabras claves no controlados: Sex chromosome aneuploidies, Early detection, Molecular test, Turner syndrome, Klinefelter syndrome.
Materias: R Medicina > RC Medicina Interna, Psiquiatría, Neurología
R Medicina > RJ Pediatría
Divisiones: Medicina
Usuario depositante: Dra Marisol Ibarra_Ramírez
Creadores:
CreadorEmailORCID
ibarra-Ramírez, Marisolmibarrar@uanl.edu.mxorcid.org/0000-0003-1442-9089
Lugo-Trampe, José de JesúsNO ESPECIFICADONO ESPECIFICADO
Campos Acevedo, Luis DanielNO ESPECIFICADONO ESPECIFICADO
Zamudios Osuna, MichelleNO ESPECIFICADONO ESPECIFICADO
Torres Muñoz, Iris CarmenNO ESPECIFICADONO ESPECIFICADO
Gómez Puente, VivianaNO ESPECIFICADONO ESPECIFICADO
García Castañeda, GloriaNO ESPECIFICADONO ESPECIFICADO
Arredondo Vázquez, PatriciaNO ESPECIFICADONO ESPECIFICADO
Rodríguez Sánchez, Irám PabloNO ESPECIFICADONO ESPECIFICADO
Schaeffer, Satu Elisaelisa.schaeffer@uanl.edu.mxorcid.org/0000-0001-6300-7208
Velasco Sepúlveda, Braulio HernánNO ESPECIFICADONO ESPECIFICADO
Villarreal Pérez, Jesús ZacaríasNO ESPECIFICADONO ESPECIFICADO
Martínez de Villarreal, Laura EliaNO ESPECIFICADONO ESPECIFICADO
Fecha del depósito: 20 Ago 2020 16:50
Última modificación: 30 Sep 2020 01:34
URI: http://eprints.uanl.mx/id/eprint/19755

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