Detection of Turner Syndrome by Quantitative PCR of SHOX and VAMP7 Genes

Ibarra-Ramirez, Marisol y Zamudio Osuna, Michelle de Jesús y Campos Acevedo, Luis Daniel y Gallardo Blanco, Hugo Leonid y Cerda Flores, Ricardo Martín y Rodríguez Sánchez, Irám Pablo y Martínez de Villarreal, Laura Elia (2015) Detection of Turner Syndrome by Quantitative PCR of SHOX and VAMP7 Genes. Genetic testing and molecular biomarkers, 19 (2). pp. 1-5. ISSN 1945-0257

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Resumen

Turner Syndrome (TS) is an unfavorable genetic condition with a prevalence of 1:2500 in newborn girls. Prompt and effective diagnosis is very important to appropriately monitor the comorbidities. The aim of the present study was to propose a feasible and practical molecular diagnostic tool for newborn screening by quantifying the gene dosage of the SHOX, VAMP7, XIST, UBA1, and SRY genes by quantitative polymerase chain reaction (qPCR) in individuals with a diagnosis of complete X monosomy, as well as those with TS variants, and then compare the results to controls without chromosomal abnormalities. According to our results, the most useful markers for these chromosomal variants were the genes found in the pseudoautosomic regions 1 and 2 (PAR1 and PAR2), because differences in gene dosage (relative quantification) between groups were more evident in SHOX and VAMP7 gene expression. Therefore, we conclude that these markers are useful for early detection in aneuploidies involving sex chromosomes.

Tipo de elemento: Article
Materias: R Medicina > RC Medicina Interna, Psiquiatría, Neurología
R Medicina > RT Enfermería
Divisiones: Medicina
Usuario depositante: Dra Marisol Ibarra_Ramírez
Creadores:
CreadorEmailORCID
Ibarra-Ramirez, Marisolmibarrar@uanl.edu.mxorcid.org/0000-0002-3875-4532
Zamudio Osuna, Michelle de JesúsNO ESPECIFICADONO ESPECIFICADO
Campos Acevedo, Luis DanielNO ESPECIFICADONO ESPECIFICADO
Gallardo Blanco, Hugo Leonidhugo.gallardobl@uanl.edu.mxNO ESPECIFICADO
Cerda Flores, Ricardo MartínNO ESPECIFICADONO ESPECIFICADO
Rodríguez Sánchez, Irám PabloNO ESPECIFICADONO ESPECIFICADO
Martínez de Villarreal, Laura EliaNO ESPECIFICADONO ESPECIFICADO
Fecha del depósito: 20 Ago 2020 16:16
Última modificación: 30 Sep 2020 01:33
URI: http://eprints.uanl.mx/id/eprint/19217

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