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|Title:||Increased expression of AML1-a and acquired chromosomal abnormalities in childhood acute lymphoblastic leukemia|
Van Heusden, D.
|Abstract:||Introduction. Dystrophinopathies are X-linked genetic disorders caused by mutations in the DMD gene. Genetic tests are of utmost importance for management and genetic counseling of these diseases. However, the complexity of the DMD gene is a challenge for diagnosis. Aim. To describe recent advances in the diagnosis of dystrophinopathies, after 20 years since the firsts molecular assays for genetic screening for these diseases. Development. Currently, a variety of strategies such as automated mutation detection, cell-based methods and high throughput haplotyping have been developed to facilitate diagnosis of dystrophinopathies, carrier detection, prenatal and preimplantation diagnosis. Conclusion. New technologies have improved early detection and optimal management of dystrophinopathies and have established the basis for future molecular medicine. The most significant advances in dystrophinopathy diagnosis are reviewed herein. " 2011 Revista de Neurología.",,,,,,,,,"http://hdl.handle.net/20.500.12104/42119","http://www.scopus.com/inward/record.url?eid=2-s2.0-79952263036&partnerID=40&md5=b0ff39721c5e3c7cfc9e17badeef7a47",,,,,,"4",,"Revista de Neurologia",,"239|
WOS",,,,,,"Carrier; Duchenne; Dystrophin; Preimplantation genetics; Prenatal diagnosis",,,,,,"Improvements in the diagnosis of dystrophinopathies: What have we learnt in these last 20 years? [Mejoras en el diagnóstico de distrofinopatías: ¿Qué hemos aprendido después de 20 años?]",,"Review" "43962","123456789/35008",,"Gutiérrez-Angulo, M., División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Tepatitlán, Jalisco, Mexico, Universidad de Guadalajara, Centro Universitario de Los Altos, Tepatitlán, Jalisco, Mexico; González-García, J.R., División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Tepatitlán, Jalisco, Mexico; Meza-Espinoza, J.P., División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Tepatitlán, Jalisco, Mexico; Picos-Cárdenas, V.J., División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Tepatitlán, Jalisco, Mexico; Esparza-Flores, M.A., Departamento de Hematología, Hospital de Pediatría, IMSS, Tepatitlán, Jalisco, Mexico; López-Guido, B., Departamento de Hematología, Hospital de Pediatría, IMSS, Tepatitlán, Jalisco, Mexico; Rivera, H., División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Tepatitlán, Jalisco, Mexico, Centro de Investigación Biomédica de Occidente, IMSS, Ap-postal 1-3838, Tepatitlán, Jal., Mexico",,"Gutierrez-Angulo, M.
Rivera, H.",,"2004",,"A semi-quantitative expression analysis of both AML1-a and AML1-total was performed by RT-PCR in 19 children with acute lymphoblastic leukemia (ALL) at diagnosis. AML1-a expression was assessed in 16 bone marrow (BM) and 13 peripheral blood (PB) samples whereas AML1-total was assessed in 17 BM and 16 PB samples. These analyses were also carried out in 15 PB samples of healthy controls. In addition, 18/19 patients were karyotyped: 11 had an unmodified constitutional karyotype (CK) and seven exhibited acquired chromosomal abnormalities (ACA). The expression of AML1-a was significantly increased in BM and PB when compared with the controls (p < 0.013 and p < 0.035, respectively). A significant increase was found in the expression of AML1-a in BM of the ACA group compared with the CK group (p < 0.0009). The expression of AML1-a in BM and PB showed a significant increase in the ACA group compared with controls (p < 0.00001 and p < 0.012, respectively); in contrast, the CK group did not differ from the controls. These observations may mean that the increase of AML1-a favours the progression of leukemia. Copyright " 2005 John Wiley & Sons, Ltd.
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