Analysis on mutation of adrenoleukodystrophy gene in exon 1 and exon 5 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 43-45, 2003.
Artigo
em Chinês
| WPRIM
| ID: wpr-248504
ABSTRACT
<p><b>OBJECTIVE</b>To elucidate the molecular mechanism of X-linked adrenoleukodystrophy(ALD) in Chinese.</p><p><b>METHODS</b>Polymerase chain reaction in exon 1, exon 5 and their flanking sequences and direct DNA sequencing of ALD gene were performed in four patients, their mothers and twenty normal individuals as controls.</p><p><b>RESULTS</b>A splice mutation was identified in the interface of exon 5 and intron 5 (1875 G-->A). This splice mutation in 5' end of intron 5 might lead to abnormal splice in exon 5 and exon 6 and bring about unstable and abnormal ALD protein; the lignoceryl CoA ligase could not transport very long chain fatty acids (VLCFA) into peroxisome and could not function normally; consequently, defective beta-oxidation of VLCFA in peroxisome could result in an accumulation of VLCFAS in the central nervous system, adrenal gland and blood.</p><p><b>CONCLUSION</b>The splice mutation in 5' end of intron 5 leading to abnormal splice in exon 5 and exon 6 appears to be one of the causes of X-linked recessive adrenoleukodystrophy.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Patologia
/
DNA
/
Análise Mutacional de DNA
/
Dados de Sequência Molecular
/
Sequência de Bases
/
Íntrons
/
Química
/
Éxons
/
Saúde da Família
/
Processamento Alternativo
Tipo de estudo:
Estudo prognóstico
Limite:
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2003
Tipo de documento:
Artigo
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