摘要
目的探讨ＣｒｅｕｔｚｆｅｌｄｔＪａｋｏｂ病（ＣＪＤ）的生前诊断方法，ＣＪＤ患者基因型有否变异与病理改变和临床表现的关系，以及与免疫组化染色对朊蛋白（ｐｒｉｏｎｐｒｏｔｅｉｎ，ＰｒＰ）在脑内沉积类型之间的关系。方法取ＣＪＤ患者脑组织，用ＰｒＰ抗血清为第一抗体的免疫组化染色；并制成１５％重量容积比的脑匀浆，注入昆明小鼠脑内，观察１～２年，发病小鼠脑亦经免疫组化染色。取患者静脉血分离白细胞提取ＤＮＡ，以特异引物扩增ＰｒＰ片段，常规７种限制性内切酶酶切已知常见ＣＪＤ易于变异的基因位点，琼脂糖凝胶电泳检测结果。结果该患者为散发型病例，患者脑内为突触型ＰｒＰ沉积，传递小鼠脑内亦可见ＰｒＰ沉积，ＰｒＰ基因分析表现为密码子１２９甲硫氨酸纯合子。结论本例无ＰｒＰ基因变异；脑内突触型ＰｒＰ沉积的患者，动物传递易于得到阳性结果。对此类患者应早期诊断，防止医源性蔓延。
Objective To make a clinical and pathological study of Creutzfeldt Jakob disease (CJD) diagnosed by Brain biopsy before the patient′s death. Methods The brain biopsy samples was stained with hematoxylin eosin (HE) and the immunohistochemical method, The brain homogenate 15%(W/V) from the CJD patient was inoculated into the mice brains. Gene analysis of the patient with CJD were carried out using the extracted high molecular weight DNA from the peripheral blood lymphocytes of patients. The PrP coding region was amplified by the polymerase chain reaction (PCR) with the primers T 1 and T 2 and checked with seven kinds of restriction enzymes. Results This patient was a sporadic CJD. There were synaptic type PrP accumulating in the patient brain and transmitted to the mice brains. PrP gene analysis expressed codon 129 Met/Met homozygous. Conclusions This patient was a case of sporadic CJD with codon 129 Met/Met affirmed with the animal transmissions and immunohistochemical staining. It would be prejerable to make an early diagnosis of this disease to avoid or minimize the possibility of iatrogenesis.
出处
《中华神经科杂志》
CSCD
1998年第6期327-329,共3页
Chinese Journal of Neurology
基金
卫生部资助项目
关键词
CJD
朊蛋白
免疫组化染色
基因分析
Creutzfeldt Jakob disease
Prion protein
Immunohistochemical stain
Gene analysis
