摘要
目的 :对骨纤维发育异常的病因在基因水平做初步探讨。方法 :取患者的病损组织进行原代培养 ,然后通过RT PCR检测突变位点 ,并连接到T载体测序进一步鉴定。结果 :与正常对照和骨化性纤维瘤患者比较 ,中国人骨纤维发育异常患者存在Gsa蛋白第 60 2位编码基因位点特异性突变 ,造成第 2 0 1位氨基酸由Arg→His突变。结论 :Gs蛋白a亚单位突变是骨纤维发育异常的病因。
Objective:This experiment focuses on the etiology of fibrous dysplasia rudimentally.Methods:By primary cell culture from patient's focus and RT PCR to inspect mutant gene,and link to T vector for sequencing so as to identify the etiology further.Result:Compare with normal and ossifying fibroma patients,fibrous dysplasia in China lie in mutation of 602 coding gene of Gsα,which result in substitution of the arginine 201 residue with histidine.Conclusion:Gsα mutation is the etiology of fibrous dysplasia of bone.
出处
《中国矫形外科杂志》
CAS
CSCD
2002年第3期254-256,共3页
Orthopedic Journal of China
关键词
骨纤维发育异常
Gs蛋白的α亚单位
突变
病因
Fibrous dysplasia of bone
α subunit of stimulatory G protein
Gene mutation
