Mutation characterization in the GATA-1 gene in patients with Downs Syndrome diagnosed with transient abnormal myelopoiesis or acute megakaryoblastic leukemia. / Mutation characterization in the GATA-1 gene in patients with Downs Syndrome diagnosed with transient abnormal myelopoiesis or acute megakaryoblastic leukemia.
Mansini Adrián P; Rubio Patricia L; Rossi Jorge G; Gallego Marta S; Medina Adriana; Zubizarreta Pedro A; Felice María S; Alonso Cristina N.
Arch Argent Pediatr
; 111(6): 532-6, 2013 Dec.
Artículo
en Español
| BINACIS | ID: bin-132865
Patients with Downs 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 Downs 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 Downs Syndrome and MAT or AML.
Documentos relacionados