[1]郭曼丽,李伟,马绍刚,等.甲状腺过氧化物酶基因c.2268dupT突变与甲状腺结节的相关性研究[J].国际内分泌代谢杂志,2017,37(04):232-235.
　Guo Manli*,Li Wei,Ma Shaogang,et al.Relationship between c.2268dupT mutation in thyroid peroxidase gene and thyroid nodules[J].International Journal of Endocrinology and Metabolism,2017,37(04):232-235.
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甲状腺过氧化物酶基因c.2268dupT突变与甲状腺结节的相关性研究()
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《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
37
期数:
2017年04期
页码:
232-235
栏目:
论著
出版日期:
2017-07-20

文章信息/Info

Title:
Relationship between c.2268dupT mutation in thyroid peroxidase gene and thyroid nodules
作者:
郭曼丽; 李伟; 马绍刚; 仇亚丽; 郑晓; 耿宝花; 张勇; 俞伟男
221002 徐州医科大学(郭曼丽); 221002 徐州医科大学附属医院内分泌科(李伟); 223002 徐州医科大学附属淮安医院内分泌科(马绍刚,郑晓,耿宝花,张勇,俞伟男); 223800 宿迁市妇幼保健院新生儿筛查中心(仇亚丽)
Author(s):
Guo Manli*;  Li Wei;  Ma Shaogang;  Qiu Yali;  Zheng Xiao;  Geng Baohua;  Zhang Yong;  Yu Weinan.
*Xuzhou Medical University, Xuzhou 221002, China
关键词:
先天性甲状腺功能减退症;  基因突变;  甲状腺结节
Keywords:
Congenital hypothyroidism;  Gene mutation;  Thyroid nodules
文献标志码:
A
摘要:
目的 探讨先天性甲状腺功能减退症(先天性甲减)患者及其家系成员发生甲状腺结节与突变位点的关系。方法 58例先天性甲减患者入选,提取外周血白细胞基因组DNA,根据甲状腺功能及超声检查结果选择靶基因。PCR扩增甲状腺过氧化物酶(TPO)、双氧化酶2(DOUX2)、双氧化酶成熟因子2(DOUXA2)、促甲状腺激素受体(TSHR)、钠/碘协同转运体(NIS)基因的所有外显子,对纯化PCR产物进行测序。发现突变后对其家系成员进行筛查。患者及家系成员行甲状腺功能和99mTc甲状腺扫描或超声检查,然后分析5个基因的突变位点与甲状腺结节的关系。结果 16例先证者为复合杂合子或纯合子,其中10例为TPO基因突变,含c.2268dupT突变者6例。37例家系成员为杂合突变,其中TPO基因突变25例。TPO基因c.2268dupT突变先证者及杂合携带者共20例,其中12例并发甲状腺结节。与其他所有突变位点组相比,c.2268dupT突变组的甲状腺结节患病率较高,差异有统计学意义(χ2=13.545,P<0.01)。结论 TPO基因c.2268dupT突变为高频突变,该突变携带者发生甲状腺结节危险性较高。
Abstract:
Objective To investigate the relationship between thyroid nodules and mutations in patients with congenital hypothyroidism(CH)and their family members.Methods Fifty-eight patients with CH were enrolled. Genomic DNA was extracted from peripheral blood leukocytes. The target genes were selected according to the results of thyroid function and ultrasounography. All exons of thyroid peroxidase(TPO), dual oxidase 2(DOUX2), dual oxidase maturation factor 2(DOUXA2), thyroid-stimulating hormone receptor(TSHR), and sodium/iodide symporter(NIS)genes were amplified selectively by PCR and the purified PCR products were sequenced directly. If a mutation was identified in a patient, the target fragment was also evaluated among his family members. All patients and their family members received thyroid function evaluation, thyroid ultrasound examination or 99mTc pertechnetate thyroid scan. Finally, the relationship between mutations in the above mentioned five genes and thyroid nodules was analyzed.Results Sixteen probands were complex heterozygous or homozygous. The TPO gene mutation were found in 10 probands including 6 cases who had c.2268dupT mutation. Heterozygous mutation was found in 37 family members including 25 cases who had heterozygous mutations in TPO gene. The c.2268dupT mutation of TPO gene was found in twenty cases including the probands and the heterozygous carriers, 12 of them had thyroid nodules. The prevalence of thyroid nodules in patients with c.2268dupT mutation was higher than those with other mutations, and the difference was statistically significant(χ2=13.545, P<0.01).Conclusion The c.2268dupT mutation in TPO gene is a high frequency mutation in patients with CH. Persons with c.2268dupT mutation are at high risk of thyroid nodules.

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备注/Memo

备注/Memo:
通信作者:李伟,Email: liwei.190@hotmail.com; 马绍刚,Email: mashaogang@163.com
更新日期/Last Update: 2017-07-30