Zhao Ding, Yang Junmei, Guo Zhenxin, Li Rui
Zhengzhou Children's Hospital, Zhengzhou, Henan 450053, P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Apr;31(2):189-91. doi: 10.3760/cma.j.issn.1003-9406.2014.02.013.
To study a family affected with osteogenesis imperfecta for potential mutations in COL1A1 gene.
Clinical data of an affected family was collected. Potential mutation of the COL1A1 gene was screened using polymerase chain reaction and direct sequencing. Suspected mutation was detected in 20 unaffected relatives and 200 unrelated healthy controls.
Analysis of RNA splicing has revealed a c.3208G/A mutation, which created a new splice sites and led to a frameshift mutation. The same mutation was not detected in the unaffected relatives or the 200 healthy controls.
Mutations of the COL1A1 gene are one of the major causes of osteogenesis imperfecta in Chinese population. Our finding has enriched the mutation spectrum of type I collagen genes.
研究一个患有成骨不全症的家系，以寻找COL1A1基因中的潜在突变。
收集一个患病家系的临床资料。采用聚合酶链反应和直接测序法筛选COL1A1基因的潜在突变。在20名未患病亲属和200名无关健康对照中检测可疑突变。
RNA剪接分析发现一个c.3208G/A突变，该突变产生了一个新的剪接位点并导致移码突变。在未患病亲属或200名健康对照中未检测到相同突变。
COL1A1基因的突变是中国人群中成骨不全症的主要病因之一。我们的发现丰富了I型胶原基因的突变谱。
