| 陈倩 王斌 周正 刘畅 刘世国 阎胜利.先天性甲状腺功能减退症伴发育不全患儿FOXE1基因突变的初步研究[J].现代生物医学进展英文版,2016,16(14):2703-2706. |
| 先天性甲状腺功能减退症伴发育不全患儿FOXE1基因突变的初步研究 |
| Primary Study of FOXE1 Gene Mutation in Patients with CongenitalHypothyroidismand Dysgenesis |
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| DOI： |
| 中文关键词: 先天性甲状腺功能减退症 甲状腺发育不全 基因 突变 |
| 英文关键词: Congenital Hypothyroidism Dysgenesis FOXE1 Gene mutation |
| 基金项目:国家自然科学基金项目（81470044；81170812） |
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| 中文摘要: |
| 目的：研究先天性甲状腺功能减退症(CH)伴甲状腺发育不全患儿转录因子2( FOXE )的基因突变。方法：选取90 例CH伴甲
状腺发育不全患儿及90 例正常儿童作为对照，提取外周静脉血基因组DNA，采用PCR扩增与直接测序技术，对基因外
显子进行突变筛查。结果：分别在1 例先天性甲状腺功能减退症伴甲状腺发育不全患者外显子测序中发现一杂合错义变体c.
A3401G (p.K1134R)，在1 例患者中发现1 个已知的单核苷酸多态性(single nucleotide polymorphisms，SNP)位点(rs755282859, c.
483G>C)，在正常对照组中未发现以上变化。结论：在先天性甲状腺功能减退症(CH) 伴甲状腺发育不全患儿中发现新的关于FOXE1
杂合错义变体。 |
| 英文摘要: |
| Objective:The present study aimed to screen for FOXE1 mutations among Congenital Hypothyroidism (CH) with
dysgenesis patients in Shandong province.Methods:Genomic DNA was extracted from peripheral blood leukocytes of 90 unrelated
patients with CH and dysgenesis. The exon sequences of FOXE1 were amplified by PCR and directly sequenced. 90 normal subjects
were recruited as controls.Results:A novel heterozygous missense variant, c.A3401G (p.K1134R), and a single nucleotide
polymorphism(rs755282859, c.483G>C) in were identified in FOXE1 two CH patients with dysgenesis, which was not found in those 90
healthy control subjects.Conclusion:We identified a novel heterozygous missense FOXE1 variant in CH patients with dysgenesis. |
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