Molecular analysis of beta-thalassemia intermedia in Guangdong Province / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 358-360, 2007.
Artigo
em Chinês
| WPRIM
| ID: wpr-312698
ABSTRACT
<p><b>OBJECTIVE</b>To determine the molecular defects of beta-thalassemia intermedia in Guangdong Province and to provide basis for gene diagnosis and gene therapy of this disorder.</p><p><b>METHODS</b>DNA analysis of the alpha, beta and gamma globin genes was performed in 18 children with beta-thalassemia intermedia from Guangdong Province using polymerase chain reaction (PCR), microarray technique, Southern blot and direct sequencing.</p><p><b>RESULTS</b>Of the 18 patients,one was identified as the homozygote of TATA box-28 (A-->G) change, one as the homozygote of betaE26 (G-->A) mutation, ten as compound heterozygotes of TATA box- 28 (A-->G) mutation with other beta-globin mutations, two as compound heterozygotes of betaE26 (G-->A ) mutation with other beta globin mutations, and four as double heterozygotes for beta globin and alpha globin mutations including -SEA and -alpha(4.2).</p><p><b>CONCLUSIONS</b>The molecular defects of beta- thalassemia intermedia in Guangdong Province were highly heterogeneous and its spectrum was different from the reports from other provinces of China.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Globinas
/
TATA Box
/
Talassemia beta
/
Análise de Sequência com Séries de Oligonucleotídeos
/
Genética
/
Mutação
Limite:
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Lactente
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2007
Tipo de documento:
Artigo
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