COL1A1基因中一个导致I型成骨不全的新剪接突变c．3208G〉A分析  

Identification of a novel splicing mutation in COLIA1 gene in a Chinese family affected with type I osteogenesis imperfecta

作　　者：宋银森[1] 金湘东[2] 孔京慧[1] 赵鼎[1] 郭振欣[1] 

机构地区：[1]郑州市儿童医院,450053 [2]郑州铁路职业技术学院

出　　处：《中华医学遗传学杂志》2014年第4期472-475,共4页Chinese Journal of Medical Genetics

摘　　要：目的探讨COL1A1基因中一个新突变c．3208G〉A导致I型成骨不全的致病机理。方法应用标准的方法提取外周血全基因组DNA，PCR扩增基因的整个编码区域和内含子一外显子边界，应用ABI 3100／3130测序仪对PCR产物进行直接测序。从患者的EB病毒转化永生B细胞系中提取全RNA，用寡（dT）18引物合成第一链cDNA，对PCR产物直接测序或者用TA克隆质粒DNA测序。结果在一个I型成骨不全大家庭中检测到一种位于COL1A1基因上的新突变c．3208G〉A，为剪接突变。结论发现了COL1A1基因中的新的剪接突变c．3208G〉A。Objective To investigate the genetic cause for a large family affected with type I osteogenesis imperfecta. Methods Genomic DNA was extracted from peripheral venous blood samples. The entire coding region and intron-exon boundaries of the COL1A1 gene were subjected to PCR amplification and direct sequencing. Total RNA was also extracted from immortalized B cell lines from the patients, with the first strand of cDNA synthesized with an oligo （dT）18 primer. The PCR products were directly sequenced using the TA cloned plasmid. Results A c. 3208G〉 A mutation has been identified in the COL1A1 gene, which can alter the splicing pattern of mRNA. Conclusion A novel splicing mutation c. 3208G〉A of the COL1A1 gene probably underlies the disease.

关 键 词：COL1A1基因 I型成骨不全 剪接突变 

分 类 号：R596[医药卫生—内科学]