摘要COL2A1基因位于人类常染色体12q13.11-q13.2,主要编码合成Ⅱ型胶原蛋白,参与骨膜内成骨及软骨内成骨的调控过程.其突变会造成Ⅱ型胶原蛋白结构异常,导致多种骨骼-软骨发育异常疾病.该文归纳了COL2A1基因突变所致骨骼-软骨发育异常疾病患者的表型特点及此种疾病中COL2A1基因突变位点种类的分布特点,并对COL2AI基因调控因子——SRY盒基因9(SRY-box-containing gene 9,SOX)、富含AT的交互结构域结合蛋白5a(AT-rich interactive domain-containing protein 5 a,Ard5a)、上皮特异性ETS转录调节因子1(epithelium-specific ETS transcription factor-1,ESE-1)、基质金属蛋白酶(Matrix metalloproteases,MMPs)的研究进展及意义加以阐述.

abstractsCOL2A1 gene is located on the human chromosome 12 q 13.1 1 - q 13.2.It mainly encodes type Ⅱ collagen and palys a role in the regulations of intramembranous and endochondral ossification.COL2A1 heterozygous mutations have autosomal dominance inheritance,and are usually associated with a spectrum of dwarfism and skeletal malformation disease.This paper elaborates the characteristics of COL2AI heterozygous mutations in bone-cartilage dysplasia disease and the clinical features of the disease,and have some discussion on their gene regulators ( SOX9,Arid5a,ESE-1,MMPs ) which are very important to the diseases.