A novel mutation in β-globin gene of a patient with β-thalassemia / 中国实验血液学杂志
Journal of Experimental Hematology
;
(6): 398-400, 2012.
Artigo
em Chinês
| WPRIM
| ID: wpr-263383
ABSTRACT
This study was aimed to analyze the β-globin gene mutations in a patient with β-thalassemia minor. Genomic DNA was extracted from peripheral blood cells of the patient. The full-length DNA sequence coding for β-globin was amplified by polymerase chain reaction, and the gene mutation was determined by DNA sequencing. The results indicated that a heterogeneous A→G mutation was found at position 129 in intron 1 of the β-thalassemia minor patient. It is concluded that the IVS-I-129(A→G) mutation is a splicing site mutation leading to a splicing error in immature messenger RNA and a protein translation error for the β-globin gene. Thus, the IVS-I-129(A→G) is a novel mutation.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Biossíntese de Proteínas
/
Análise Mutacional de DNA
/
Sequência de Bases
/
Íntrons
/
Mutação Puntual
/
Talassemia beta
/
Sítios de Splice de RNA
/
Globinas beta
/
Genética
Limite:
Adulto
/
Feminino
/
Humanos
Idioma:
Chinês
Revista:
Journal of Experimental Hematology
Ano de publicação:
2012
Tipo de documento:
Artigo
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