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

Ibarra Ramírez, 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:

Creador	Email	ORCID
Ibarra Ramírez, Marisol	mibarrar@uanl.edu.mx	orcid.org/0000-0002-3875-4532
Zamudio Osuna, Michelle de Jesús	NO ESPECIFICADO	NO ESPECIFICADO
Campos Acevedo, Luis Daniel	NO ESPECIFICADO	NO ESPECIFICADO
Gallardo Blanco, Hugo Leonid	hugo.gallardobl@uanl.edu.mx	NO ESPECIFICADO
Cerda Flores, Ricardo Martín	NO ESPECIFICADO	NO ESPECIFICADO
Rodríguez Sánchez, Irám Pablo	NO ESPECIFICADO	NO ESPECIFICADO
Martínez de Villarreal, Laura Elia	NO ESPECIFICADO	NO ESPECIFICADO