摘要
目的:探讨中国致死性家族性失眠症(FFI)患者的临床及PRNP基因突变特点。方法:对一个FFI家系进行调查并综合分析先证者的临床资料;应用PCR技术结合DNA直接测序方法对先证者进行PRNP基因的突变筛查;回顾分析中国已报道的FFI先证者的临床特点。结果:在该先证者检出PRNP基因2号外显子上的c.532G>A(p.D178N)突变及c.385AA(p.129MM)多态,据此可确诊为FFI。Meta分析提示中国FFI患者的临床表现均较典型,PRNP基因单体型均为D178N-129MM。结论:尽管FFI患者的临床表现较典型,但对临床上疑为FFI的患者,仍应进行PRNP基因突变筛查以助确诊。
Aim： To investigate the clinical features and characteristics ofPRNP gene mutation in Chinese patients with fatal familial insomnia （FFI）. Methods： The mutation analysis of PRNP was performed via DNA direct sequencing in one Chinese patient with FFI and the clinical data were retrospectively analyzed. Results： The heterozygous mutation c.532G〉A （p.D178N） and the single nucleotide polymorphism （SNP） of c.385AA genotype （p. 129MM） were found in the proband who therefore could be identified as FFI. The clinical features of Chinese FFI patients were typical and the haplotype was D178N-129MM. Conclusion： Although the FFI manifestations are typical, genetic screening of PRNP mutations is still need for diagnosing FFI patients.
出处
《中国临床神经科学》
2012年第6期653-657,共5页
Chinese Journal of Clinical Neurosciences
