Open AccessMutation characterization in the GATA-1 gene in patients with Down’s Syndrome diagnosed with transient abnormal myelopoiesis or acute megakaryoblastic leukemia
Author(s) -
Adrián P. Mansini
Publication year - 2013
Publication title -
archivos argentinos de pediatría
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.236
H-Index - 19
eISSN - 1668-3501
pISSN - 0325-0075
DOI - 10.5546/aap.2013.eng.532
Subject(s) - acute megakaryoblastic leukemia , myelopoiesis , medicine , down syndrome , mutation , acute leukemia , transient (computer programming) , leukemia , gene , genetics , biology , computer science , stem cell , psychiatry , haematopoiesis , operating system
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.