Caracterización de mutaciones en el gen GATA-1 en pacientes con Síndrome de Down y diagnóstico de mielopoyesis anormal transitoria o leucemia megacarioblástica aguda
| Autor: | Adrian P. Mansini, Marta S. Gallego, Cristina N. Alonso, Jorge Rossi, Adriana Medina, Pedro Zubizarreta, Patricia L. Rubio, Maria S. Felice |
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| Rok vydání: | 2013 |
| Předmět: |
Mutation
education.field_of_study Down syndrome business.industry Population Gene mutation medicine.disease medicine.disease_cause Molecular biology Stop codon Acute megakaryoblastic leukemia hemic and lymphatic diseases Pediatrics Perinatology and Child Health medicine Leukemoid reaction education business Gene |
| Zdroj: | Archivos Argentinos de Pediatria. 111:532-536 |
| ISSN: | 0325-0075 |
| Popis: | Patients with Down's Syndrome have a higher risk of developing acute megakaryoblastic leukemia (AML). Ten per cent of newborn infants with this syndrome have transient abnormal myelopoiesis (TAM), indistinguishable from AML, which generally remits spontaneously. A high incidence of GATA-1 gene mutations was described in both groups of patients. Fourteen bone marrow DNA samples (10 ATM/4 AML) were analyzed by PCR and sequencing; these samples were obtained from 13 patients with Down's Syndrome to describe the rate and mutation characteristics of the GATA-1 gene in the studied population and its consequences at a protein level. Mutations were detected in 10 out of 10 TAM and in 3 out of 4 AML, which at a protein level would result in an early termination codon (n= 5), alterations in the splicing site (n= 6) or sequence change (n= 3). The high rate of GATA-1 gene mutations was confirmed in newborn infants with Down's Syndrome and MAT or AML. |
| Databáze: | OpenAIRE |
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