摘要
目的 揭示成骨不全Ⅰ型的分子遗传学发生机制.方法 分别选取致病基因COL1A1和COL1A2的一个EST片段作为种子,以NCBI中的EST数据库作为目标参考序列,用电子克隆的方法分别克隆两个基因,并对其编码的两种蛋白亚基的理化性质、氨基酸组成、二级和三级结构进行分析.结果 两种亚基虽然共同构成人Ⅰ型胶原蛋白,但两者之间相对分子量大小、等电点差别及氨基酸组成等差别较大;两者的相同点均包含信号肽序列,都带正电荷,都属于亲水性蛋白.结论 通过电子克隆得到的序列与实际序列之间存在误差,只能作为先期分析预测的参考,但是这种技术手段为具有高度遗传异质性的COL1A1和COL1A2基因致病机理的探索研究及疾病防患奠定了基础.
To uncover the molecular mechanism of congenital osteogenesis imperfecta（OI） type I, in silico cloning was used to obtain the full length cDNA of COL1A1 and COL1A2.Their physical and chemical properties, constituent amino acids and binary/ternary structures were ana-lyzed.The results showed there existed great difference in relative molecular weight, isoelectric point and amino acid composition between the two subunits.Both of them carry positive charges, are of hydrophilic nature and contain signal peptide sequences.However, there exist differences in se-quences detected by in silico cloning and sequence analysis.Therefore, the in sillico cloning result can only serve as preliminary reference.Our study paved the way to the further study of roles COL1A1 and COL1A2 in the pathogenesis of OI type I.
出处
《医学分子生物学杂志》
CAS
2017年第6期327-331,共5页
Journal of Medical Molecular Biology
