Detection of Turner Syndrome by Quantitative PCR of SHOX and VAMP7 Genes
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 newbo...
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| Format: | Article |
| Language: | English |
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Mary Ann Liebert
2015
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| Online Access: | http://eprints.uanl.mx/19217/1/Detection%20of%20Turner%20Syndrome%20by%20Quantitative%20PCR%20of%20SHOX%20and%20VAMP7%20Genes.pdf |
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| author | Ibarra Ramírez, Marisol Zamudio Osuna, Michelle de Jesús Campos Acevedo, Luis Daniel Gallardo Blanco, Hugo Leonid Cerda Flores, Ricardo Martín Rodríguez Sánchez, Irám Pablo Martínez de Villarreal, Laura Elia |
| author_facet | Ibarra Ramírez, Marisol Zamudio Osuna, Michelle de Jesús Campos Acevedo, Luis Daniel Gallardo Blanco, Hugo Leonid Cerda Flores, Ricardo Martín Rodríguez Sánchez, Irám Pablo Martínez de Villarreal, Laura Elia |
| author_sort | Ibarra Ramírez, Marisol |
| collection | Repositorio Institucional |
| description | 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. |
| format | Article |
| id | eprints-19217 |
| institution | UANL |
| language | English |
| publishDate | 2015 |
| publisher | Mary Ann Liebert |
| record_format | eprints |
| spelling | eprints-192172023-05-24T20:31:09Z http://eprints.uanl.mx/19217/ Detection of Turner Syndrome by Quantitative PCR of SHOX and VAMP7 Genes Ibarra Ramírez, Marisol Zamudio Osuna, Michelle de Jesús Campos Acevedo, Luis Daniel Gallardo Blanco, Hugo Leonid Cerda Flores, Ricardo Martín Rodríguez Sánchez, Irám Pablo Martínez de Villarreal, Laura Elia RC Medicina Interna, Psiquiatría, Neurología RT Enfermería 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. Mary Ann Liebert 2015 Article PeerReviewed text en cc_by_nc_nd http://eprints.uanl.mx/19217/1/Detection%20of%20Turner%20Syndrome%20by%20Quantitative%20PCR%20of%20SHOX%20and%20VAMP7%20Genes.pdf http://eprints.uanl.mx/19217/1.haspreviewThumbnailVersion/Detection%20of%20Turner%20Syndrome%20by%20Quantitative%20PCR%20of%20SHOX%20and%20VAMP7%20Genes.pdf 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 |
| spellingShingle | RC Medicina Interna, Psiquiatría, Neurología RT Enfermería Ibarra Ramírez, Marisol Zamudio Osuna, Michelle de Jesús Campos Acevedo, Luis Daniel Gallardo Blanco, Hugo Leonid Cerda Flores, Ricardo Martín Rodríguez Sánchez, Irám Pablo Martínez de Villarreal, Laura Elia Detection of Turner Syndrome by Quantitative PCR of SHOX and VAMP7 Genes |
| thumbnail | https://rediab.uanl.mx/themes/sandal5/images/online.png |
| title | Detection of Turner Syndrome by Quantitative
PCR of SHOX and VAMP7 Genes |
| title_full | Detection of Turner Syndrome by Quantitative
PCR of SHOX and VAMP7 Genes |
| title_fullStr | Detection of Turner Syndrome by Quantitative
PCR of SHOX and VAMP7 Genes |
| title_full_unstemmed | Detection of Turner Syndrome by Quantitative
PCR of SHOX and VAMP7 Genes |
| title_short | Detection of Turner Syndrome by Quantitative
PCR of SHOX and VAMP7 Genes |
| title_sort | detection of turner syndrome by quantitative pcr of shox and vamp7 genes |
| topic | RC Medicina Interna, Psiquiatría, Neurología RT Enfermería |
| url | http://eprints.uanl.mx/19217/1/Detection%20of%20Turner%20Syndrome%20by%20Quantitative%20PCR%20of%20SHOX%20and%20VAMP7%20Genes.pdf |
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