摘要
目的探讨DNA测序技术在选择wilson病亲体肝移植供、受者中的意义。方法对拟行亲体肝移植的2例临床确诊的wilson病患者及供者(患者父/母)抽取外周静脉血提取基因组DNA。以患者及供者的DNA为模板,分别对ATP7B基因的21个外显子进行PCR扩增。取PCR产物进行DNA测序,检测该基因序列的单核苷酸多态(SNP)位点和突变情况。选取1例健康人作为测序对照。结果1例患者为2511delA变异和A3809G变异的复合杂和子;其父亲为2511delA变异的杂和子,母亲为A3809G变异的杂和子;另1例患者及父母基因结构正常。结论DNA测序技术可以明确鉴别ATP7B基因的变异,是确诊wilson病患者和选择其亲体肝移植供者的有效方法。
【Objective】To investigate the significance of selecting the recipients and the donors of living related liver transplantation for Wilson′s disease by DNA sequencing.【Methods】 Genomic DNA of 2 patients who will have living related liver transplantation for wilson′s disease and their parents were subjected to polymerase chain re-action (PCR) and single nucleotide polymorphism (SNP) and mutations of ATP7B gene coding regions were detected by sequencing.To select a health adult for control.【Results】 One patient...
出处
《中国现代医学杂志》
CAS
CSCD
北大核心
2008年第22期3316-3318,3321,共4页
China Journal of Modern Medicine
基金
天津市器官移植术推广中心建设课题资助(No:05ZHTGCG00300)
关键词
亲体肝移植
肝豆状核变性
DNA测序
living related liver transplantation
Wilson′s disease
DNA sequencing
