A new mutation of iduronate-2-sulfatase gene from the patient with Hunter syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 67-69, 2006.
Artículo
en Chino
| WPRIM
| ID: wpr-263850
ABSTRACT
<p><b>OBJECTIVE</b>To identify the mutations of iduronate-2-sulfatase (IDS) gene, and to establish a basis of prenatal gene diagnosis of Hunter syndrome.</p><p><b>METHODS</b>Urine glycosaminoglycan (GAG) assay was used to preliminary diagnosis of mucopolysaccharidosis. PCR-denaturing high-performance liquidchromatograptly (PCR-DHPLC) analysis was performed to detect the mutation in exons 9, 3, 8 of the IDS gene. DNA sequencing was applied to analyze the mutation detected by PCR-DHPLC.</p><p><b>RESULTS</b>Abnormal peaks were found by PCR-DHPLC. A new frame-mutation (1569+TT) in exon 9 of IDS gene was identified by DNA sequencing. Two "T"q inserted in position 1569 base pair (1569+TT) caused a substitution of codon 482 (TTA, leucine) to 482 (TTT, phenylalanine). The "TT" insertion results in the decrease of amino acids from 550 to 482. The patient is a hemizygote and his mother is a heterozygote.</p><p><b>CONCLUSION</b>A new frame-shift mutation of IDS gene is found to report. The mutation (1569+TT) results in 68 amino acids lost. Probably it causes the enzyme activity seriously dropped down and being pathologically the basis of disease.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Análisis Mutacional de ADN
/
Datos de Secuencia Molecular
/
Cromatografía Líquida de Alta Presión
/
Mucopolisacaridosis II
/
Mucopolisacaridosis
/
Genética
/
Iduronato Sulfatasa
/
Mutación
Tipo de estudio:
Estudio pronóstico
Límite:
Child, preschool
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2006
Tipo del documento:
Artículo
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