NTCP缺陷病患儿SLC10A1基因新变异的识别、诊断和高危筛查
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基本信息

项目批准号 81741080
学科分类 医学科学部(H) — 生殖系统/围生医学/新生儿(H04) — 新生儿相关疾病(H0421)
负责人 宋元宗
依托单位 暨南大学
项目分类 应急管理项目
资助金额 20.00万元
起止时间 2018年01月01日至2018年12月31日
中文主题词 SLC10A1基因；变异；高胆红素血症；胆汁淤积症；NTCP缺陷病
英文主题词 SLC10A1 gene;variants;hyperbilirubinemia;cholestasis;NTCP deficiency

项目摘要

中文摘要 钠牛磺胆酸共转运多肽(NTCP)是由SLC10A1基因编码、表达于肝细胞基侧膜的转运蛋白，负责转运血浆胆汁酸盐到肝细胞内，在胆汁酸盐肠肝循环中发挥重要作用。尽管SLC10A1基因已被克隆多年，但作为一种新的遗传代谢病，NTCP缺陷病的表现型和基因型特征还远未被充分认识。我们的前期研究结果提示：NTCP缺陷病可能是新生儿/婴儿高胆汁酸血症的重要原因之一，患儿SLC10A1变异谱既含高频变异，也存在一定异质性。为进一步验证这一假说，本研究通过直接测序等方法在NTCP缺陷病高危新生儿和婴儿中识别SLC10A1基因新变异，然后根据变异性质，设计并建立相应的分子诊断方法，并进一步应用于本病高危患儿的变异筛查。本研究可为NTCP缺陷病患儿确诊提供新的分子标志物和新的诊断方法，为科学认识本病基因型提供精准医学实验依据，同时为后续深入研究提出新的科学问题，具有重要理论价值和科学意义。
英文摘要 Sodium taurocholate cotransporting polypeptide (NTCP) is a transporter protein encoded by the solute carrier (SLC) family 10 member 1 (SLC10A1) gene. This protein is expressed in the basolateral membrane of the hepatocyte and functions to uptake bile salts from the plasma, playing a vital role in the enterohepatic circulation of bile salts. Although SLC10A1 gene has been cloned for years, as a new inborn error of metabolism, NTCP deficiency still remains far from being well understood in terms of the genotypic and phenotypic features. Our preliminary research findings suggested that NTCP deficiency might be an important factor among the diverse etiologies causing neonatal/infantile hypercholanemia while the SLC10A1 variant spectrum of the patients not only covers prevalent variants but also demonstrates heterogeneity to some extent. To further verify this hypothesis, this project will identify novel SLC10A1 variants in sick neonates and/or infants at high risk of NTCP deficiency by means of such tools as direct sequencing, develop molecular diagnostic approaches according to the characteristics of the relevant variants, and then utilize these methods to screen for SLC10A1 variants in high-risk patients. This study will provide novel molecular markers and diagnostic tools for the patients affected by NTCP deficiency, come up with laboratory evidences of precision medicine for the in-depth understanding of the genotype of this disease, and raise new academic questions for subsequent investigations, having important theoretical value and scientific significance.

结题摘要

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