Detection of mutations inGATA1gene using automated denaturing high-performance liquid chromatography and direct sequencing in children with Down syndrome

Autor:	Marcia R. Amorim, Alexandre B. C. Figueiredo, Alessandra Splendore, Isis Q. Magalhães, Maria S. Pombo-d´e-Oli˙veira, null Bcsgail, Kênia B. El-Jaick, Maria Lydia D'andrea, Jozina Aquino, Dora Márcia Alencar, Silvia R. Brandalise, Lilian Burlemaqui, Teresa Cristina Cardoso, Eni Guimarães Carvalho, Virginia M. Coser, Imaruí Costa, Dolores Dorea, Mauricio Drumond, Venâncio Gomes Lopes, Núbia Mendonça, Maria Lucia M. Lee, Luis Fernando Lopes, Carmen M. Mendonça, Flávia Nogueira, Flávia Pimenta, Vitória P. Pinheiro, Denise Bousfield Da Silva, Elaine Sobral, Fernando R. Vargas, Fernando Werneck
Rok vydání:	2009
Předmět:	Genetics Cancer Research Mutation medicine.medical_specialty Sequence analysis Hematology Biology medicine.disease_cause medicine.disease Molecular biology Denaturing high performance liquid chromatography Acute megakaryoblastic leukemia Exon Oncology Molecular genetics medicine Gene Heteroduplex
Zdroj:	Leukemia & Lymphoma. 50:834-840
ISSN:	1029-2403 1042-8194
DOI:	10.1080/10428190902829433
Popis:	Denaturing high-performance liquid chromatography (dHPLC) was developed to screen DNA variations by separating heteroduplex and homoduplex DNA fragments by ion-pair reverse-phase liquid chromatography. In this study, we have evaluated the dHPLC screening method and direct sequencing for the detection of GATA1 mutations in peripheral blood and bone marrow aspirates samples from children with Down syndrome (DS). Cases were ascertained consecutively as part of an epidemiological study of DS and hematological disorders in Brazil. A total of 130 samples corresponding to 115 children with DS were analysed using dHPLC and direct sequencing methods to detect mutations in GATA1 exons 2, 3 and 4 gene sequences. The overall detection rate of sequencing and dHPLC screening methods was similar. Twenty mutations were detected in exon 2 and one mutation in exon 3 (c.231_232 dupGT) sequences of acute megakaryoblastic leukemia and transient leukemia samples. Four GATA1 mutations were newly described [c.155C > G; c.156_178 del23 bp; c.29_30 del GG; c.182C > A and c.151A > T,c.153_162 del 10 bp). Out of four, three had single nucleotide change. In conclusion, our results indicate that dHPLC is an efficient and valuable tool for GATA1 mutational analysis.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::09fc386c13b0228319ff9be113a3429d https://doi.org/10.1080/10428190902829433 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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