Identification of a novel ANK1 gene mutation in a newborn with hereditary spherocytosis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 44-47, 2016.
Artigo
em Chinês
| WPRIM
| ID: wpr-247739
ABSTRACT
<p><b>OBJECTIVE</b>To determine the disease-causing mutation in a newborn with hereditary spherocytosis.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples of the patient and her parents. Next-generation sequencing was used to analyze the related genes. Suspected pathogenic mutation was verified with polymerase chain reaction and Sanger sequencing.</p><p><b>RESULTS</b>An insertional mutation g.834_833insC was identified in the coding region of ankyrin-1 (ANK1) gene, which has caused a frame shift, resulting premature termination of protein translation.</p><p><b>CONCLUSION</b>The hereditary spherocytosis in the neonate was probably due to the g.834_833insC mutation of the ANK1 gene.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Esferocitose Hereditária
/
Dados de Sequência Molecular
/
Sequência de Bases
/
Sequência de Aminoácidos
/
Anquirinas
/
Diagnóstico
/
Genética
/
Doenças do Recém-Nascido
/
Mutação
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Feminino
/
Humanos
/
Recém-Nascido
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2016
Tipo de documento:
Artigo
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