A new mutation (1062 del 16) of iduronate-2-sulfatase gene from a Chinese patient with Hunter syndrome / 浙江大学学报(英文版)(B辑:生物医学和生物技术)
Journal of Zhejiang University. Science. B
;
(12): 566-569, 2007.
Artículo
en Inglés
| WPRIM
| ID: wpr-277363
ABSTRACT
<p><b>OBJECTIVE</b>To identify the mutations of iduronate-2-sulfatase (IDS) gene, to reveal its mutation features, and to establish a basis for genetic counseling and prenatal gene diagnosis of Hunter syndrome.</p><p><b>METHODS</b>Urine glycosaminoglycans (GAGs) assay, PCR and DNA sequencing were performed to detect mutation of IDS gene of the patient and his parents.</p><p><b>RESULTS</b>The result showed that the patient was DS(++), HS(++), KS(-), CS(-), and that both of his parents were negative. A frame-shift deletion mutation (1062 del 16) was identified in exon 7 of the patient's IDS gene. His parents' genotypes were normal.</p><p><b>CONCLUSION</b>The patient's mutation was not inherited by his parents but a novel one. The mutation probably altered the primary structure and tertiary structure of IDS enzyme protein remarkably and lowered the activity of IDS enzyme greatly. Therefore it is supposed to be the direct cause of the disorder.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Orina
/
Secuencia de Bases
/
Glicoproteínas
/
Mucopolisacaridosis II
/
Pueblo Asiatico
/
Genética
/
Mutación
Tipo de estudio:
Estudio pronóstico
Límite:
Child, preschool
/
Femenino
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Journal of Zhejiang University. Science. B
Año:
2007
Tipo del documento:
Artículo
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