He Hong-Bo, Hu Zheng-Mao, Li He-Jun, Zhu Yong, Shi Xiao-Liu, Lei Guang-Hua, Zhou Jiang-Nan, Li Kang-Hua
Department of Orthopaedics, Xiangya Hospital, Central South University, Changsha, China.
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2007 Apr;32(2):323-7.
To detect the mutations of EXT2 gene in hereditary multiple exostoses (HME) families and to investigate the sensitivity of denaturant gradient gel electrophoresis (DGGE) in screening the mutations in EXT2 gene.
Five HME families and 3 sporadic patients were screened for the mutation detection in all exons of EXT2 gene covering the coding sequence and the flanking intronic sequence by DGGE, and DNA sequencing was performed for products with abnormal conformation.
Among these HME patients, we found 2 disease-causing mutations: A313T (nonsense mutation) and 319 insGT (frameshift mutation).
Two mutations of EXT2 gene are identified in the sample. DGGE can be an ideal choice for gene diagnoses of HME.
检测遗传性多发性骨软骨瘤（HME）家系中EXT2基因的突变情况，并探讨变性梯度凝胶电泳（DGGE）筛查EXT2基因突变的敏感性。
采用DGGE技术对5个HME家系和3例散发患者的EXT2基因所有外显子进行突变检测，覆盖编码序列及侧翼内含子序列，对构象异常的产物进行DNA测序。
在这些HME患者中，我们发现了2个致病突变：A313T（无义突变）和319 insGT（移码突变）。
在样本中鉴定出EXT2基因的2个突变。DGGE可成为HME基因诊断的理想选择。
