Chinese Journal of Tissue Engineering Research ›› 2018, Vol. 22 ›› Issue (20): 3275-3280.doi: 10.3969/j.issn.2095-4344.0235
Yan Mo-qi, Han Feng, Guan Zhe-heng, Wang Yi-fan, Lu Ji-hang, Yang Hui-lin, Sun Ye
Received:
2017-12-26
Online:
2018-07-18
Published:
2018-07-18
Contact:
Sun Ye, Department of Orthopedics, the First Affiliated Hospital of Soochow University, Suzhou 215000, Jiangsu Province, China
About author:
Yan Mo-qi, Master, Physician, Department of Orthopedics, the First Affiliated Hospital of Soochow University, Suzhou 215000, Jiangsu Province, China
CLC Number:
Yan Mo-qi, Han Feng, Guan Zhe-heng, Wang Yi-fan, Lu Ji-hang, Yang Hui-lin, Sun Ye. Genetic characteristics of anterior cruciate ligament rupture susceptibility genes[J]. Chinese Journal of Tissue Engineering Research, 2018, 22(20): 3275-3280.
2.1 COL5A1 COL5A1基因编码了低丰度原纤维胶原蛋白中的一个α链,通过荧光原位杂交技术,人类 COL5A1 基因已经被定位于9q34.3。COL5A1 基因由 66个外显子组成,COL5A1第一个内含子的最小尺寸为600 kb,是目前最大的内含子。原纤维胶原分子是由一种或多种类型的纤维胶原蛋白α链组成的三聚体。V型胶原一般存在于含有Ⅰ型胶原的组织中,起到调节由Ⅰ型和V型胶原组成的异型纤维的组装的作用。COL5A1在韧带和肌腱的形态发育中起关键作 用[8-9],研究发现COL5A1基因的突变会导致严重的韧带和肌腱疾病,如Ehlers-Danlos综合征[8],跟腱炎和前交叉韧带断裂等[10-11]。动物研究表明,在Col5a1基因敲除的小鼠中,前交叉韧带的最大负荷和刚度均明显降低,导致小鼠关节不稳定[9]。而在韧带和肌腱中V型胶原的定向敲除也同样会导致严重的纤维组织的异常,这在为关节提供稳定性的前交叉韧带中,主要表现为原纤维直径的增加和原纤维数量减少,从而改变胶原原纤维结"
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