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An association study of the slc26a4 gene in children with mental retardation
Li, Jun1; Zhang, Fuchang2; Gao, Jianjun1,3; Cai, Zhen3; Zhao, Qian1; Xing, Yi1; Xu, Jie3; Liu, Yun3; Shao, Liyan1; Che, Ronglin1
刊名Neuroscience letters
2009-07-03
卷号457期号:3页码:155-158
关键词Slc26a4 Iodine deficiency Mental retardation Iodide flux
ISSN号0304-3940
DOI10.1016/j.neulet.2009.03.099
通讯作者He, lin(helinhelin@gmail.com)
英文摘要It is generally considered that iodine deficiency is the single most common cause of preventable mental retardation (mr) and brain damage. the slc26a4 gene is expressed at the apical surface of thyrocytes and its product forms an efficient iodide-trapping mechanism. to investigate whether variability in the slc26a4 gene influences the risk of iodine-deficiency based mr, we undertook an association study between slc26a4 and mr. participants were recruited from a relatively isolated and traditionally iodine-deficient region with a high prevalence of mr. the snps we selected from the dbsnp and hapmap were identified using arms-pcr and sequencing methods. singular-locus and haplotype association analysis indicated no association between the slc26a4 gene and mr (p > 0.05). the negative results suggest that the slc26a4 gene has no measurable impact on iodine-deficiency based mr. in view of the characteristics of our samples, our study may provide a good reference for research into the transport features of pendrin in the thyrocyte apical surface. (c) 2009 elsevier ireland ltd. all rights reserved.
WOS关键词PENDRED-SYNDROME GENE ; APICAL IODIDE EFFLUX ; THYROID-HORMONES ; PDS ; TRANSPORTERS ; DEFECTS ; CHANNEL ; GOITER ; FAMILY ; GLAND
WOS研究方向Neurosciences & Neurology
WOS类目Neurosciences
语种英语
出版者ELSEVIER IRELAND LTD
WOS记录号WOS:000266432500011
内容类型期刊论文
URI标识http://www.corc.org.cn/handle/1471x/2394641
专题中国科学院大学
通讯作者He, Lin
作者单位1.Shanghai Jiao Tong Univ, Minist Educ, BioX Ctr, Key Lab Genet Dev & Neuropsychiat Disorders, Shanghai 200030, Peoples R China
2.Northwest Univ, Inst Populat & Hlth, Xian 710069, Peoples R China
3.Chinese Acad Sci, Grad Sch, Shanghai Inst Biol Sci, Inst Nutr Sci, Shanghai 200031, Peoples R China
4.Fudan Univ, Inst Biomed Sci, Shanghai 200032, Peoples R China
推荐引用方式
GB/T 7714
Li, Jun,Zhang, Fuchang,Gao, Jianjun,et al. An association study of the slc26a4 gene in children with mental retardation[J]. Neuroscience letters,2009,457(3):155-158.
APA Li, Jun.,Zhang, Fuchang.,Gao, Jianjun.,Cai, Zhen.,Zhao, Qian.,...&He, Lin.(2009).An association study of the slc26a4 gene in children with mental retardation.Neuroscience letters,457(3),155-158.
MLA Li, Jun,et al."An association study of the slc26a4 gene in children with mental retardation".Neuroscience letters 457.3(2009):155-158.
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