一例假性软骨发育不全患者基因突变分析  

Gene mutation analysis in a patient with pseudoachondroplasia

作　　者：王尧[1] 崔亚洲[2] 周小燕[2] 韩金祥[2] 

机构地区：[1]山东中医药大学,济南250355 [2]山东省医药生物技术研究中心,卫生部医药生物技术重点实验室,济南250062

出　　处：《国际骨科学杂志》2014年第2期126-128,共3页International Journal of Orthopaedics

摘　　要：目的对1例初步诊断为假性软骨发育不全(PSACH)患者及其父母进行软骨寡聚基质蛋白(COMP)基因突变筛查,以判定患者是否为PSACH。方法提取患者及父母外周血DNA,针对COMP外显子8-19序列设计引物,进行PCR扩增、纯化,并对扩增产物进行毛细管电泳测序。结果测序结果显示患者COMP基因第9号外显子925位点有一处新突变G>A,使其编码蛋白第309位氨基酸由甘氨酸(Gly)变为精氨酸(Arg),且该突变位点在国内尚未报道。结论通过基因测序,可确定该患者为PSACH。Objective To detect the mutations of COMP gene by sequencing for one preliminary diagnostic pseudoachondroplasia （PSACH） patient and her parents. Methods The genomic DNA of the patient and her parents was extracted for polymerase chain reaction （PCR）, and a set of primers were designed to amplify the exon 8-19 by PCR, then the products were purified and performed by capillary sequencing. Results A novel c. 925 G〉A mutation was identified in the exon 9 of COMP gene by capillary sequencing, and this mutation made the protein encoded by the 309^th amino acid from glycine （Gly） into arginine （Arg）. So far, this mutation has not been reported in domestic. Conclusions By gene sequencing, this patient can be determined for a PSACH.

关 键 词：假性软骨发育不全 软骨寡聚基质蛋白 基因测序 基因突变 

分 类 号：R726.8[医药卫生—儿科]