Detection of Turner Syndrome by quantitative PCR of SHOX and VAMP7 genes

Genet Test Mol Biomarkers. 2015 Feb;19(2):88-92. doi: 10.1089/gtmb.2014.0236. Epub 2014 Dec 23.

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.

Publication types

  • Comparative Study

MeSH terms

  • Chromosomes, Human, X / genetics
  • Early Diagnosis
  • Female
  • Gene Dosage
  • Gene Expression Profiling
  • Genes, X-Linked*
  • Genes, sry
  • Genetic Testing / methods*
  • Homeodomain Proteins / genetics*
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male
  • Mexico / epidemiology
  • Monosomy
  • Neonatal Screening / methods*
  • R-SNARE Proteins / genetics*
  • RNA, Long Noncoding / genetics
  • Real-Time Polymerase Chain Reaction / methods*
  • Short Stature Homeobox Protein
  • Turner Syndrome / diagnosis*
  • Turner Syndrome / epidemiology
  • Turner Syndrome / genetics
  • Ubiquitin-Activating Enzymes / genetics

Substances

  • Homeodomain Proteins
  • R-SNARE Proteins
  • RNA, Long Noncoding
  • SHOX protein, human
  • Short Stature Homeobox Protein
  • UBA1 protein, human
  • VAMP7 protein, human
  • XIST non-coding RNA
  • Ubiquitin-Activating Enzymes