EXT1基因中的1633-26位突变（C→A）导致多发性骨软骨瘤
[A mutation 1633-26(C-->A) in EXT1 gene causes multiple exostoses].
作者信息
Xie Zhi-guo, Hu Zheng-mao, Pan Qian, Zhang Rui-fang, Liang De-sheng, Wu Ling-qian, Long Zhi-gao, Dai He-ping, Xia Kun, Xia Jia-hui
机构信息
National Laboratory of Medical Genetics of China, Central South University, Changsha, Hunan, 410078 P.R.China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Apr;23(2):147-50.
OBJECTIVE
To study the gene mutation in a patient with multiple exostoses, identify the disease-causing gene mutation.
METHODS
Polymerase chain reaction and DNA sequencing were used to screen the EXT1 or EXT2 gene mutation, while mismatch primer amplification and restriction endonuclease digestion were performed to confirm the mutation.
RESULTS
By DNA sequencing, a mutation in the seventh intron was detected and located at 26 bp of 3' splice site upstream in EXT1 gene, which was unreported before. Mismatch primer amplification and restriction fragment length polymorphism analysis suggested that this mutation was not detected in the normal control.
CONCLUSION
The mutation 1633-26(C-->A) may be the disease-causing mutation in this patient with multiple exostoses.
目的
研究一名多发性外生骨疣患者的基因突变情况，确定致病基因突变。
方法
采用聚合酶链反应和DNA测序技术筛选EXT1或EXT2基因突变，同时进行错配引物扩增和限制性内切酶消化以确认突变。
结果
通过DNA测序，在EXT1基因的第七内含子中检测到一个突变，位于3'剪接位点上游26 bp处，此前未见报道。错配引物扩增和限制性片段长度多态性分析表明，正常对照中未检测到该突变。
结论
1633-26（C→A）突变可能是该多发性外生骨疣患者的致病突变。
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