中国常染色体显性遗传骨胳石化症(II型)家系突变基因筛查研究初报

Analysis of Gene Mutation in Chinese Patients with Familial Inherited Autosomal Dominant Osteopetrosis,Type II(ADO2)

为寻找骨胳石化症II的致病基因,从一患该病的家系成员收集血液,制备基因组DNA.应用PCR(聚合链式反应)技术和直接测序分析ClCN7的24个外显子,寻找基因变异.结果表明,除一些内含子中存在个别多态性外,所有成员均未检测到ClCN7基因突变,提示该基因不是本病常见的致病基因,在这个家系中ADOII可能归因于其他基因的突变.

To screen possible disease-causing mutations in the ClCN7 gene in 4 patients of a family with Autosomal Dominant Osteopetrosis, Type Ⅱ（ADO2）, genomic DNA was collected from all members with ADO2. The coding sequences of the ClCN7 gene were analyzed by using PCR and direct sequencing. The results showed that no mutations were found in any individuals except some polymorphisms in several introns. It indicates that ADOⅡ is due to mutation of other genes in this family.