首页> 外国专利> COMPOSITION FOR DIAGNOSIS, PREVENTION AND TREATMENT OF DOWN'S SYNDROME COMPRISING PRO ALPHA I TYPE III COLLAGEN GENE AS MARKER GENE OR PROTEIN EXPRESSED THEREFROM

COMPOSITION FOR DIAGNOSIS, PREVENTION AND TREATMENT OF DOWN'S SYNDROME COMPRISING PRO ALPHA I TYPE III COLLAGEN GENE AS MARKER GENE OR PROTEIN EXPRESSED THEREFROM

机译:诊断,预防和治疗唐氏综合症的组合物,包括唐氏综合症或蛋白表达的蛋白质III型胶原蛋白原

摘要

PURPOSE: A composition for diagnosis, prevention and treatment of Down's syndrome comprising pro alpha I type III collagen(COL3A1) gene as a marker gene or protein expressed from it is provided. The expression rate of COL3A1 gene is significantly changed in connection with Down's syndrome, therefore, the composition is used for the diagnosis of Down's syndrome. CONSTITUTION: The composition for diagnosis of Down's syndrome comprises pro alpha I type III collagen gene which comprises a portion of the nucleotide sequence set forth in SEQ ID NO:1, and is a single strand nucleic acid. The composition for prevention and treatment of Down's syndrome comprises pro alpha I type III collagen(COL3A1) gene which comprises a portion of the nucleotide sequence set forth in SEQ ID NO:1. A method for measuring the expression rate of COL3A1 from a sample is characterized by using the composition comprising pro alpha I type III collagen(COL3A1) gene, wherein the sample is collected from amniotic fluid.
机译:目的:提供一种用于唐氏综合症的诊断,预防和治疗的组合物,其包含proαI型III型胶原蛋白(COL3A1)基因作为标记基因或由其表达的蛋白质。 COL3A1基因的表达率与唐氏综合症有关而显着改变,因此,该组合物用于唐氏综合症的诊断。组成:用于诊断唐氏综合症的组合物包含pro alpha I III型胶原蛋白基因,其包含SEQ ID NO:1所示核苷酸序列的一部分,并且是单链核酸。用于预防和治疗唐氏综合症的组合物包含pro alpha I III型胶原蛋白(COL3A1)基因,该基因包含SEQ ID NO:1所示核苷酸序列的一部分。一种用于测量样品中COL3A1表达率的方法,其特征在于,使用包含III型原α胶原蛋白(COL3A1)基因的组合物,其中样品是从羊水中收集的。

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