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Caracterización de mutaciones en el gen GATA-1 en pacientes con Síndrome de Down y diagnóstico de mielopoyesis anormal transitoria o leucemia megacarioblástica aguda
- Source :
- Archivos Argentinos de Pediatria. 111:532-536
- Publication Year :
- 2013
- Publisher :
- Sociedad Argentina de Pediatria, 2013.
-
Abstract
- 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.
- Subjects :
- 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
Subjects
Details
- ISSN :
- 03250075
- Volume :
- 111
- Database :
- OpenAIRE
- Journal :
- Archivos Argentinos de Pediatria
- Accession number :
- edsair.doi...........9420be69124c023a221c58cc0ec18d11