COL2A1基因突变与Ⅱ型胶原蛋白病表型关系的研究进展

doi:10.13481/j.1671-587x.20200335

摘要/Abstract

摘要： 胶原蛋白是人体中占比最大的蛋白类型，其中Ⅱ型胶原蛋白是构成关节软骨和透明软骨的重要蛋白。COL2A1基因可编码Ⅱ型胶原蛋白前体，因此COL2A1基因突变会导致Ⅱ型胶原蛋白的结构发生改变，进而导致Ⅱ型胶原蛋白病。现收集已报道的COL2A1基因突变病例，探讨常见的COL2A1基因突变类型和COL2A1突变导致的临床表型，总结COL2A1基因突变位置信息及突变类型信息，分析患者发病年龄和性别与临床表型的相关性。根据COL2A1基因突变所导致的临床表型亚型的发病特点，将21种亚型分为5类并阐述各类表型患者的临床特征，为Ⅱ型胶原蛋白病的诊断提供新思路。

关键词: COL2A1基因, 基因突变, Ⅱ型胶原蛋白病, 遗传疾病

中图分类号:

R681

张铂彦, 张悦, 刘贺, 吴乃超, 王金成. COL2A1基因突变与Ⅱ型胶原蛋白病表型关系的研究进展[J]. 吉林大学学报(医学版), 2020, 46(03): 643-648.

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