title: Detection of Turner Syndrome by quantitative PCR of SHOX and VAMP7 genes.
abstract: 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.
authors.affiliation: 1 Departamento de Genética, Hospital Universitario "Dr. José Eleuterio González," Universidad Autónoma de Nuevo León, Monterrey , Nuevo León, México .
authors.forename: Marisol
authors.initials: M
authors.lastname: Ibarra-Ramírez
authors.forename: Michelle Jesús
authors.initials: MJ
authors.lastname: Zamudio-Osuna
authors.forename: Luis Daniel
authors.initials: LD
authors.lastname: Campos-Acevedo
authors.forename: Hugo Leonid
authors.initials: HL
authors.lastname: Gallardo-Blanco
authors.forename: Ricardo Martin
authors.initials: RM
authors.lastname: Cerda-Flores
authors.forename: Irám Pablo
authors.initials: IP
authors.lastname: Rodríguez-Sánchez
authors.forename: Laura Elia
authors.initials: LE
authors.lastname: Martínez-de-Villarreal
mesh_terms: D041321:Chromosomes, Human, X / Q000235:genetics; D042241:Early Diagnosis; D005260:Female; D018628:Gene Dosage; D020869:Gene Expression Profiling; D050172:Genes, X-Linked; D024282:Genes, sry; D005820:Genetic Testing / Q000379:methods*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008800:Mexico / Q000453:epidemiology; D009006:Monosomy; D015997:Neonatal Screening / Q000379:methods*; D050683:R-SNARE Proteins / Q000235:genetics*; D062085:RNA, Long Noncoding / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction / Q000379:methods*; D000074122:Short Stature Homeobox Protein; D014424:Turner Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D044764:Ubiquitin-Activating Enzymes / Q000235:genetics
chemical_list: D018398:Homeodomain Proteins; D050683:R-SNARE Proteins; D062085:RNA, Long Noncoding; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein; C471538:UBA1 protein, human; C121241:VAMP7 protein, human; C077885:XIST non-coding RNA; D044764:Ubiquitin-Activating Enzymes