Study on TR beta gene mutation in a thyroid hormone resistance syndrome family / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 423-426, 2006.
Article
em Zh
| WPRIM
| ID: wpr-285110
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To detect the gene mutation of thyroid hormone receptor beta (TR beta) in a family with thyroid hormone resistance syndrome.</p><p><b>METHODS</b>The genomic DNA was extracted from peripheral blood leukocytes of the patient, 14 family members and 7 healthy subjects. The exons 7-10 of TR beta gene were amplified by PCR. The products of PCR were purified and sequenced directly to detect the gene mutation.</p><p><b>RESULTS</b>Five members of this family were confirmed to have the C to G transition mutation at nucleotide 1642 site within exon 10 of TR beta gene, which was a missense mutation causing the substitution of Proline to Alanine (P453A); and also to have the C to T transition mutation at nucleotide 1020 within exon 7 of TR beta gene, which was a synonymous mutation that didn't cause the change of amino acid at this position (F245F). The two mutations were heterozygote. No mutation in the exons 7-10 of TR beta gene were identified in other family members.</p><p><b>CONCLUSION</b>A family with thyroid hormone resistance syndrome caused by TR beta gene mutation is first founded in Chinese people.</p>
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Linhagem
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Análise Mutacional de DNA
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Sequência de Bases
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Reação em Cadeia da Polimerase
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Saúde da Família
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Síndrome da Resistência aos Hormônios Tireóideos
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Receptores beta dos Hormônios Tireóideos
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Genética
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Heterozigoto
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Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adult
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Child
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Female
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Humans
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Male
Idioma:
Zh
Ano de publicação:
2006
Tipo de documento:
Article