多发性骨骺发育不良患者软骨寡聚物基质蛋白基因突变的研究

目的：探讨我国多发性骨骺发育不良患者中软骨寡聚物基质蛋白(COMP)基因的突变情况。方法：应用聚合酶链反应—单链构象多态性技术(PCR-SSCP)结合DNA直接测序对我国临床诊断为多发性骨骺发育不良的10例患者，其10名父母及30名正方对照进行COMP基因第10，13和14外显子区域突变分析。结果：正方对照SSCP分析均表现为相同带型。1例散发重型患者COMP基因外显子14区检测到单链泳动变位，测序结果显示第14内含子的近5′端存在纯合性G→A变异。结论：该变异可能是一种新型点突变，与患儿临床表型有关，也可能是COMP基因第14内含子中的一种单核苷酸多态。

Mutations of Cartilage Oligomeric Matrix Protein Gene in Multiple Epiphyseal Dysplasia

Objective: Our aim was to study the characteristics of mutation of cartilage oligomeric matrix protein (COMP) gene in Chinese patients with multiple epiphyseal dysplasia( MED). Methods:The PCR-SSCP analysis was performed to screen exon 10,13, and 14 of COMP gene in ten patients with MED and 30 healthy control for mutation . Direct sequencing of PCR products was performed to find out the location and pattern of mutation. Results:The healthy control had the same bands. A sporadic patient with severe type displayed mobility shift,which was confirmed as homozygous G to A transition in the 5'end of intron 14 by sequencing. Conclusion: This transition might be either a novel mutation which is likely to be associated with the phenotype of patient or a single nucleotide polymorphism in the intron 14 of COMP gene.