| 20例先天性甲状腺功能减退症患者甲状腺过氧化物酶基因突变分析 |
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| 引用本文： | 李海飞,刘一心,谢建生,陈斌,李素丽.20例先天性甲状腺功能减退症患者甲状腺过氧化物酶基因突变分析[J].中华内分泌代谢杂志,2011,27(8). |
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| 作者姓名： | 李海飞 刘一心 谢建生 陈斌 李素丽 |
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| 作者单位： | 南方医科大学附属深圳市妇幼保健院,518048 |
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| 摘 要： | 检测20例先天性甲状腺功能减退症患者甲状腺过氧化物酶(TPO)基因突变.发现1例患者在TPO基因第13外显子处存在c.2268insT纯合性突变,另1例为TPO基因c.2268insT突变和第9外显子c.1477G＞A突变复合杂合子.TPO基因可能是中国人群先天性甲状腺功能减退症发生的原因之一.Abstract：Thyroid peroxidase(TPO) gene was detected in 20 patients with congenital hypothyroidism. An insertion c. 2268insT of TPO gene was found in one of them, and c. 2268insT combined with c. 1477G＞C mutation in another. TPO gene mutation may be related to pathogenesis of congenital hypothyroidism in Chinese.
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| 关 键 词： | 先天性甲状腺功能减退症 甲状腺过氧化物酶基因 突变 |
Mutation analysis of thyroid peroxidase gene in 20 Chinese patients with congenital hypothyroidism |
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| LI Hai-fei,LIU Yi-xin,XIE Jian-sheng,CHEN Bin,LI Su-li.Mutation analysis of thyroid peroxidase gene in 20 Chinese patients with congenital hypothyroidism[J].Chinese Journal of Endocrinology and Metabolism,2011,27(8). |
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| Authors: | LI Hai-fei LIU Yi-xin XIE Jian-sheng CHEN Bin LI Su-li |
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| Abstract: | Thyroid peroxidase(TPO) gene was detected in 20 patients with congenital hypothyroidism. An insertion c. 2268insT of TPO gene was found in one of them, and c. 2268insT combined with c. 1477G＞C mutation in another. TPO gene mutation may be related to pathogenesis of congenital hypothyroidism in Chinese. |
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| Keywords: | Congenital hypothyroidism Thyroid peroxidase gene Mutation |
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