Mutation of thyroid peroxidase gene in 35 patients with congenital hypothyroidism
OBJECTIVE: To identify thyroid peroxidase (TPO) gene mutations in 35 patients with congenital hypothyroidism
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 49(2011), 8 vom: 18. Aug., Seite 626-30 |
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| 1. Verfasser: | |
| Weitere Verfasser: | , , , |
| Format: | Aufsatz |
| Sprache: | Chinese |
| Veröffentlicht: |
2011
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| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics |
| Schlagworte: | English Abstract Journal Article Research Support, Non-U.S. Gov't Autoantigens Iron-Binding Proteins TPO protein, human EC 1.11.1.7 Iodide Peroxidase EC 1.11.1.8 |
| Zusammenfassung: | OBJECTIVE: To identify thyroid peroxidase (TPO) gene mutations in 35 patients with congenital hypothyroidism METHOD: 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 RESULT: 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 CONCLUSION: High frequency mutation in TPO gene was detected in patients with congenital hypothyroidism |
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| Beschreibung: | Date Completed 19.04.2012 Date Revised 07.06.2016 published: Print Citation Status MEDLINE |
| ISSN: | 0578-1310 |