Analysis of IDS gene mutation in a family affected with mucopolysaccharidosis typeⅡ / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 58-60, 2017.
Artigo
em Chinês
| WPRIM
| ID: wpr-345325
ABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutation of iduronate-2-sulfatase (IDS) gene in a family affected with mucopolysaccharidosis type Ⅱ (MPS Ⅱ).</p><p><b>METHODS</b>For the proband and his unaffected mother, the whole coding sequence of the IDS gene was analyzed with PCR and bidirectional Sanger sequencing.</p><p><b>RESULTS</b>A novel splicing mutation, c.709-1G>A, was detected in the proband, for which his mother was heterozygous.</p><p><b>CONCLUSION</b>The c.709-1G>A splicing mutation of the IDS gene is probably causative for the MSP Ⅱ in the proband. Prenatal diagnosis for the mutation may avoid birth of further child affected with this disease.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Análise Mutacional de DNA
/
Sequência de Bases
/
Glicoproteínas
/
Saúde da Família
/
Mucopolissacaridose II
/
Predisposição Genética para Doença
/
Diagnóstico
/
Genética
/
Heterozigoto
/
Iduronato Sulfatase
Tipo de estudo:
Estudo diagnóstico
Limite:
Criança
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2017
Tipo de documento:
Artigo
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