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A novel mutation of the alpha-L-iduronidase gene in a patient with mucopolysaccharidosis type I / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 136-139, 2007.
Artículo en Chino | WPRIM | ID: wpr-285018
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the molecular genetic mechanism of a Chinese patient with mucopolysaccharidosis type I (MPS I).</p><p><b>METHODS</b>PCR-sequencing analysis was applied to detect the mutations in exons in alpha-L-iduronidase gene (IDUA) of the patient. Restriction fragment length polymorphism (RFLP) and allele-specific oligonucleotide hybridization (ASO) were used to confirm the identified mutations. PCR amplified DNA samples from 50 normal individuals were sequenced to demonstrate that the newly identified mutation was not polymorphism.</p><p><b>RESULTS</b>The patient was compound heterozygous for a previously reported nonsense mutation Q60X (178C > T) in exon 2, inherited from the mother, and a newly detected missense mutation D203N (607G > A) in exon 6 from the father. The newly identified mutation D203N was not found in PCR amplified products from 50 normal individuals, indicating that it was not polymorphism.</p><p><b>CONCLUSION</b>The two identified mutations may be the cause resulting in patient's clinical phenotype.</p>
Asunto(s)
Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Linaje / Polimorfismo Genético / Polimorfismo de Longitud del Fragmento de Restricción / Análisis Mutacional de ADN / Secuencia de Bases / Reacción en Cadena de la Polimerasa / Exones / Mucopolisacaridosis I / Codón sin Sentido / Mutación Missense Tipo de estudio: Estudio pronóstico Límite: Adolescente / Femenino / Humanos / Masculino Idioma: Chino Revista: Chinese Journal of Medical Genetics Año: 2007 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Linaje / Polimorfismo Genético / Polimorfismo de Longitud del Fragmento de Restricción / Análisis Mutacional de ADN / Secuencia de Bases / Reacción en Cadena de la Polimerasa / Exones / Mucopolisacaridosis I / Codón sin Sentido / Mutación Missense Tipo de estudio: Estudio pronóstico Límite: Adolescente / Femenino / Humanos / Masculino Idioma: Chino Revista: Chinese Journal of Medical Genetics Año: 2007 Tipo del documento: Artículo