先天性甲状腺功能减退症伴甲状腺肿大患儿DUOXA2基因突变研究

doi:10.11852/zgetbjzz2015-23-01-03

中国儿童保健杂志 ›› 2015, Vol. 23 ›› Issue (1): 7-10.DOI: 10.11852/zgetbjzz2015-23-01-03

先天性甲状腺功能减退症伴甲状腺肿大患儿DUOXA2基因突变研究

刘璐¹,李惠超²,柴健³,邵慧莹⁴,衣明纪⁵ ,陈培杰¹,刘世国⁶,阎胜利¹

1 青岛大学附属医院内分泌科,山东青岛 266003; 2 青岛大学附属医院甲状腺外科,山东青岛 266003;3 青岛大学医学院生物化学与分子生物学,山东青岛 266021; 4 临沂市平邑县中医院五官科,山东临沂 273300; 5 青岛大学附属医院儿童保健科,山东青岛 266003; 6 青岛大学附属医院产前诊断中心,山东青岛 266003

收稿日期:2014-08-04 发布日期:2015-01-10 出版日期:2015-01-10
通讯作者: 阎胜利,E-mail:yansl07@163.com
作者简介:刘璐(1989-),女,山东人,硕士研究生在读,主要研究方向为内分泌
基金资助:
国家自然科学基金(81170812);山东省人口和计划生育委员会科技计划项目(2013-5)

Study on DUOXA2 gene mutation in patients with congenital hypothyroidism and goiter.

LIU Lu¹,LI Hui-chao²,CHAI Jian³,SHAO Hui-ying⁴,YI Ming-ji⁵,CHEN Pei-jie¹,LIU Shi-guo⁵,YAN Sheng-li¹

1 Department of Endocrinology; 2 Department of Thyroid Surgery,the Affiliated Hospital of Qingdao University,Qingdao,Shandong 266003,China; 3 Department of Biochemistry and Molecular Biology,Medical College of Qingdao University,Qingdao,Shandong 266003,China; 4 Hospital of Traditional Chinese Medicine of Pingyi,Linyi,Shandong 273300,China; 5 Department of Pediatrics; 6 Prenatal Diagnosis Center,the Affiliated Hospital of Qingdao University,Qingdao,Shandong 266003,China

Received:2014-08-04 Online:2015-01-10 Published:2015-01-10
Contact: YAN Sheng-li,E-mail:yansl07@163.com

摘要/Abstract

摘要： 目的研究中国山东地区先天性甲状腺功能减退症(congenital hypothyroidism,CH)伴甲状腺肿大患儿双氧化酶成熟因子2(DUOXA2)基因突变类型及特点,为CH的诊断及治疗提供理论依据。方法选取55例CH伴甲状腺肿大患儿和100例正常对照。提取外周静脉血基因组DNA,采用PCR扩增与直接测序的方法,对DUOXA2基因全部外显子进行突变筛查。对发现的SNP位点的基因频率进行χ² 检验。结果在1例CH患者中发现1个DUOXA2基因纯合性无义突变(c.C738G)。并在10例CH患儿和13个健康人中发现1个单核苷酸多态性(SNP)位点(rs2576092,IVS4+6 C>T)。在正常对照中未发现突变。两组的SNP基因频率比较,差异无统计学意义。结论 DUOXA2基因突变率较低,可能不是山东地区CH伴甲状腺肿大患者的主要病因。

关键词: 先天性甲状腺功能减退症, 甲状腺肿大, DUOXA2基因, 突变, 单核苷酸多态性

Abstract: Objective To investigate the dual oxidase maturation factor 2 (DUOXA2) mutations in patients with congenital hypothyroidism (CH) and goiter from Shandong province,China,and to give solid theoretical basis for prenatal diagnosis and gene therapy of CH. Methods A total of 55 patients of CH with goiter and 100 healthy individuals were enrolled,and extracted Genomic DNA from peripheral blood leukocytes.All exons of DUOXA2 gene were amplified by PCR,the products were directly sequenced to find new mutations types of DUOXA2 gene,and χ² test was used. Results A homozygous nonsense mutation (c.C738G) of DUOXA2 gene was identified in one patient,and a SNP (rs2576092,IVS4+6 C>T) in intron 4 was found in 10 CH patients and 13 healthy controls.There was no significant difference between the SNP rate in CH patients and controls(P＞0.05). Conclusion The mutation rate of DUOXA2 gene is very low,which suggests that DUOXA2 gene mutation may not be the main cause of CH with goiter patients from Shandong province.

Key words: congenital hypothyroidism, goiter, DUOXA2 gene, gene mutation, single nucleotide polymorphism

中图分类号:

R725.8

刘璐,李惠超,柴健,邵慧莹,衣明纪 ,陈培杰,刘世国,阎胜利. 先天性甲状腺功能减退症伴甲状腺肿大患儿DUOXA2基因突变研究[J]. 中国儿童保健杂志, 2015, 23(1): 7-10.

LIU Lu,LI Hui-chao,CHAI Jian,SHAO Hui-ying,YI Ming-ji,CHEN Pei-jie,LIU Shi-guo,YAN Sheng-li. Study on DUOXA2 gene mutation in patients with congenital hypothyroidism and goiter.[J]. journal1, 2015, 23(1): 7-10.

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先天性甲状腺功能减退症伴甲状腺肿大患儿DUOXA2基因突变研究

Study on DUOXA2 gene mutation in patients with congenital hypothyroidism and goiter.

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