DUOX2 gene mutation in patients with congenital goiter with hypothyroidism / 中华儿科杂志
Chinese Journal of Pediatrics
;
(12): 943-946, 2011.
Artículo
en Chino
| WPRIM
| ID: wpr-356337
ABSTRACT
<p><b>OBJECTIVE</b>To identify DUOX2 gene mutation in patients with congenital goiter with hypothyroidism.</p><p><b>METHOD</b>Five patients who had transit congenital hypothyroidism with goiter were enrolled. The exons of DUOX2 gene were amplified and sequenced.</p><p><b>RESULT</b>A heterozygous missense mutation C1329T in the exon 10 of the DUOX2 gene was found in one patient, predicted to result in a Tryptophan to Arginine substitution at codon 376. However no mutation was detected in the other patients.</p><p><b>CONCLUSION</b>p.Arg376Trp mutation in DUOX2 was found in newborns of congenital hypothyroidism. The alleles frequency of this mutation may contribute to the function loss of congenital hypothyroidism.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Exones
/
NADPH Oxidasas
/
Hipotiroidismo Congénito
/
Oxidasas Duales
/
Genética
/
Bocio
/
Mutación
Límite:
Child, preschool
/
Femenino
/
Humanos
/
Lactante
/
Masculino
/
Recién Nacido
Idioma:
Chino
Revista:
Chinese Journal of Pediatrics
Año:
2011
Tipo del documento:
Artículo
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