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)

作　　者：朱传炳[1] 李芳[1] 吴嵩龄[1] 李永青[1] 王跃群[1] 袁婺州[1] 邓云[1] 吴秀山[1] 

机构地区：[1]湖南师范大学蛋白质化学与发育生物学教育部重点实验室部省共建国家重点实验室心脏发育研究中心,中国长沙410081

出　　处：《湖南师范大学自然科学学报》2006年第2期104-105,共2页Journal of Natural Science of Hunan Normal University

基　　金：国家自然科学基金资助项目(3021010392;30270722;30270644;30470867;30570265);科技部973基金资助项目(2005CB522505);'长江学者创新团队发展计划基金资助'项目;编号:IRT0445;湖南省科技厅基金资助项目(04FJ2006)

摘　　要：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.

关 键 词：骨胳石化症 ClCN7 突变分析 多态性 

分 类 号：Q965.4[生物学—昆虫学]