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人钠/碘转运体基因G395R与先天性甲状腺功能减退症相关 被引量：1

Investigation of the relationship between G395R mutation of human sodium/iodide symporter and congenital hypothyroidism
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摘要 先天性甲状腺功能减退症 5 2例和 10 6例健康婴幼儿 ,采用PCR RFLP技术对钠 /碘同向转运体 (hNIS)基因 3 95位点进行基因突变筛查。研究表明hNIS基因G3 95R突变可能不是青岛地区先天性甲状腺功能减退症发病的主要原因。 The G395R mutation of human sodium/iodide symporter gene was investigated by PCR-RFLP in 52 children with congenital hypothyroidism and 106 health children. The result suggested that G395R mutation may not be the main cause of congenital hypothyroidism in Qingdao.
作者 阎胜利 赵真 傅平
机构地区 青岛大学医学院附属医院内分泌科 青岛市妇女儿童医疗保健中心
出处 《中华内分泌代谢杂志》 CAS CSCD 北大核心 2004年第2期114-115,共2页 Chinese Journal of Endocrinology and Metabolism
关键词 先天性甲状腺功能减退症 钠/碘同向转运体 hNIS基因 基因突变 Hypothyroidism, congenital Gene mutation Sodium/iodide symporter
分类号 R725.8 [医药卫生—儿科]
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参考文献8

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  • 2Fujiwara H,Tatsumi K,Tanaka S,et al.A novel V59E missense mutation in the sodium iodide symporter gene in a family with iodide transport defect[].Thyroid.2000
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同被引文献9

  • 1程志强,蔡军,蔡芳,赵崇,张镜宇,张连祥,张建民,郑翠英.适于临床PCR法基因检测的血样处理[J].天津医科大学学报,1996,2(2):18-20. 被引量：14
  • 2Kopp P. Perspective: genetic defects in the etiology of congenital hypothyroidism. Endocrinology, 2002, 143: 2019-2024.
  • 3Smanik PA, Liu Q, Furninge TL. Cloning of the human sodium/iodide symporter. Biochem Biophys Res Commun, 1996, 226: 339-345.
  • 4Fujiwara H, Tatsumi K, Miki K, et al. Recurrent T354P mutations of the Na^+/I^- symporter in patients with iodide transport defect. J Clin Endocrinol Metab, 1998, 83:2940-2943.
  • 5Matsuda A, Kosugi S. A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect. J Clin Endocrinol Metab, 1997, 82: 3966-3971.
  • 6Dohan O, De la Vieja A, Paroder V, et al. The sodium/iodide symporter (NIS): characterization, regulation and medical significance. Endocrinol Rev, 2003, 24: 48-77.
  • 7Kosugi S, Bhayana S, Dean HJ. A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect. J Clin Endocrinol Metab, 1999, 84: 3248-3253.
  • 8Tonacchera M, Agretti P, De Marco G, etal. Congenital hypothyroidism due to a new deletion in the sodium/iodide synporter protein. Clin Endocrinol (Off), 2003, 59: 500-506.
  • 9方佩华,吕枚,黄广玉,袁承运,杨箐岩,王秀英,马咸成,刘戈力,许静,陈昆明,张墨玲.天津市区266401例新生儿先天性甲状腺功能减退筛查[J].中华核医学杂志,2003,23(5):273-275. 被引量：7

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中华内分泌代谢杂志
2004年 第2期

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