Gene Copy Number Quantification of SHOX , VAMP7 , and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates
Aims: To explore the feasibility of detecting sex chromosome aneuploidies (SCAs) by means of gene copy number quantification of short stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY in newborns. Materials and Methods: Gene doses of SHOX, VAMP7, and SRY were determined...
| Autores principales: | , , , , , , , , , , , , |
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| Formato: | Artículo |
| Lenguaje: | inglés |
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Mary Ann Liebert
2020
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| Acceso en línea: | http://eprints.uanl.mx/19755/1/gene%20copy%20SHOx%20vamp7%20sry%20in%20neonates.pdf |
| _version_ | 1838551003159330816 |
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| author | Ibarra Ramírez, Marisol Lugo Trampe, José de Jesús Campos Acevedo, Luis Daniel Zamudio Osuna, Michelle de Jesús Torres Muñoz, Iris Carmen Gómez Puente, Viviana García Castañeda, Gloria Arredondo Vázquez, Patricia Rodríguez Sánchez, Irám Pablo Schaeffer, Satu Elisa Velasco Sepúlveda, Braulio Hernán Villarreal Pérez, Jesús Zacarías Martínez de Villarreal, Laura Elia |
| author_facet | Ibarra Ramírez, Marisol Lugo Trampe, José de Jesús Campos Acevedo, Luis Daniel Zamudio Osuna, Michelle de Jesús Torres Muñoz, Iris Carmen Gómez Puente, Viviana García Castañeda, Gloria Arredondo Vázquez, Patricia Rodríguez Sánchez, Irám Pablo Schaeffer, Satu Elisa Velasco Sepúlveda, Braulio Hernán Villarreal Pérez, Jesús Zacarías Martínez de Villarreal, Laura Elia |
| author_sort | Ibarra Ramírez, Marisol |
| collection | Repositorio Institucional |
| description | Aims: To explore the feasibility of detecting sex chromosome aneuploidies (SCAs) by means of gene copy number quantification of short stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY in newborns. Materials and Methods: Gene doses of SHOX, VAMP7, and SRY were determined by quantitative polymerase chain reaction (qPCR) using DNA obtained from dried blood samples from newborns. Relative quantification values were obtained. An aneuploidy profile was established according to cutoff values. Samples with ≥2 gene doses (out of range) were reanalyzed, and those with aneuploidy profiles were confirmed by karyotyping. Sensitivity, specificity, and positive and negative predictive values were obtained. Results: A total of 10,033 samples were collected (4945 females and 5088 males). Of 244 (2.43%) samples with ≥2 gene doses that were retested, 20 cases were confirmed. The overall incidence of SCAs was 1 in 500 live newborns. There were six cases of Turner syndrome (1/824), 3 cases of XXX (1/1648), 7 cases of Klinefelter syndrome (1/726), and 4 cases of of XYY (1/1272). The sensitivity was 0.952 (95.24%), specificity of 0.975 (97.56%), positive predictive value of 0.909 (90.91%), and negative predictive value of 0.987 (98.77%). Conclusions: Gene copy number analyses of VAMP7, SHOX, and SRY genes by qPCR from blood samples spotted onto filter paper is a highly reliable method for the early detection of male and female SCAs. |
| format | Article |
| id | eprints-19755 |
| institution | UANL |
| language | English |
| publishDate | 2020 |
| publisher | Mary Ann Liebert |
| record_format | eprints |
| spelling | eprints-197552025-07-10T16:14:58Z http://eprints.uanl.mx/19755/ Gene Copy Number Quantification of SHOX , VAMP7 , and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates Ibarra Ramírez, Marisol Lugo Trampe, José de Jesús Campos Acevedo, Luis Daniel Zamudio Osuna, Michelle de Jesús Torres Muñoz, Iris Carmen Gómez Puente, Viviana García Castañeda, Gloria Arredondo Vázquez, Patricia Rodríguez Sánchez, Irám Pablo Schaeffer, Satu Elisa Velasco Sepúlveda, Braulio Hernán Villarreal Pérez, Jesús Zacarías Martínez de Villarreal, Laura Elia RC Medicina Interna, Psiquiatría, Neurología RJ Pediatría Aims: To explore the feasibility of detecting sex chromosome aneuploidies (SCAs) by means of gene copy number quantification of short stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY in newborns. Materials and Methods: Gene doses of SHOX, VAMP7, and SRY were determined by quantitative polymerase chain reaction (qPCR) using DNA obtained from dried blood samples from newborns. Relative quantification values were obtained. An aneuploidy profile was established according to cutoff values. Samples with ≥2 gene doses (out of range) were reanalyzed, and those with aneuploidy profiles were confirmed by karyotyping. Sensitivity, specificity, and positive and negative predictive values were obtained. Results: A total of 10,033 samples were collected (4945 females and 5088 males). Of 244 (2.43%) samples with ≥2 gene doses that were retested, 20 cases were confirmed. The overall incidence of SCAs was 1 in 500 live newborns. There were six cases of Turner syndrome (1/824), 3 cases of XXX (1/1648), 7 cases of Klinefelter syndrome (1/726), and 4 cases of of XYY (1/1272). The sensitivity was 0.952 (95.24%), specificity of 0.975 (97.56%), positive predictive value of 0.909 (90.91%), and negative predictive value of 0.987 (98.77%). Conclusions: Gene copy number analyses of VAMP7, SHOX, and SRY genes by qPCR from blood samples spotted onto filter paper is a highly reliable method for the early detection of male and female SCAs. Mary Ann Liebert 2020-05 Article PeerReviewed text en cc_by_nc_nd http://eprints.uanl.mx/19755/1/gene%20copy%20SHOx%20vamp7%20sry%20in%20neonates.pdf http://eprints.uanl.mx/19755/1.haspreviewThumbnailVersion/gene%20copy%20SHOx%20vamp7%20sry%20in%20neonates.pdf Ibarra Ramírez, Marisol y Lugo Trampe, José de Jesús y Campos Acevedo, Luis Daniel y Zamudio Osuna, Michelle de Jesús y Torres Muñoz, Iris Carmen y Gómez Puente, Viviana y García Castañeda, Gloria y Arredondo Vázquez, Patricia y Rodríguez Sánchez, Irám Pablo y Schaeffer, Satu Elisa y Velasco Sepúlveda, Braulio Hernán y Villarreal Pérez, Jesús Zacarías y Martínez de Villarreal, Laura Elia (2020) Gene Copy Number Quantification of SHOX , VAMP7 , and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates. Genetic testing and molecular biomarkers, 24 (6). pp. 1-7. ISSN 1945-0257 DOI: 10.1089/gtmb.2019.0226 |
| spellingShingle | RC Medicina Interna, Psiquiatría, Neurología RJ Pediatría Ibarra Ramírez, Marisol Lugo Trampe, José de Jesús Campos Acevedo, Luis Daniel Zamudio Osuna, Michelle de Jesús Torres Muñoz, Iris Carmen Gómez Puente, Viviana García Castañeda, Gloria Arredondo Vázquez, Patricia Rodríguez Sánchez, Irám Pablo Schaeffer, Satu Elisa Velasco Sepúlveda, Braulio Hernán Villarreal Pérez, Jesús Zacarías Martínez de Villarreal, Laura Elia Gene Copy Number Quantification of SHOX , VAMP7 , and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates |
| thumbnail | https://rediab.uanl.mx/themes/sandal5/images/online.png |
| title | Gene Copy Number Quantification of SHOX , VAMP7 , and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates |
| title_full | Gene Copy Number Quantification of SHOX , VAMP7 , and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates |
| title_fullStr | Gene Copy Number Quantification of SHOX , VAMP7 , and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates |
| title_full_unstemmed | Gene Copy Number Quantification of SHOX , VAMP7 , and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates |
| title_short | Gene Copy Number Quantification of SHOX , VAMP7 , and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates |
| title_sort | gene copy number quantification of shox vamp7 and sry for the detection of sex chromosome aneuploidies in neonates |
| topic | RC Medicina Interna, Psiquiatría, Neurología RJ Pediatría |
| url | http://eprints.uanl.mx/19755/1/gene%20copy%20SHOx%20vamp7%20sry%20in%20neonates.pdf |
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