Mutation of thyroid peroxidase gene in 35 patients with congenital hypothyroidism / 中华儿科杂志
Chinese Journal of Pediatrics
; (12): 626-630, 2011.
Article
em Zh
| WPRIM
| ID: wpr-276984
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To identify thyroid peroxidase (TPO) gene mutations in 35 patients with congenital hypothyroidism.</p><p><b>METHOD</b>Genomic DNA was isolated from peripheral blood samples of 35 patients with congenital hypothyroidism. All of the 17 exons and flanking introns of TPO gene were amplified by PCR, then the PCR products were sequenced bi-directionally and were analyzed by restriction endonucleases.</p><p><b>RESULT</b>One patient had compound heterozygous mutations c.961A>G/c.2422delT, one was c.2268insT/c.1477G>A, and three was homozygous mutation c.2268insT. The TPO gene mutation c.961A>G [p. Thr321Ala] was one novel mutation.</p><p><b>CONCLUSION</b>High frequency mutation in TPO gene was detected in patients with congenital hypothyroidism.</p>
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Autoantígenos
/
Análise Mutacional de DNA
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Estudos de Casos e Controles
/
Éxons
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Hipotireoidismo Congênito
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Proteínas de Ligação ao Ferro
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Genética
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Iodeto Peroxidase
/
Mutação
Tipo de estudo:
Observational_studies
Limite:
Child
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Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
Zh
Revista:
Chinese Journal of Pediatrics
Ano de publicação:
2011
Tipo de documento:
Article