肝豆状核变性又称Wilson’s病(WD),是一种好发于青少年的常染色体隐性遗传病,以铜代谢障碍为特征。自1993年WD基因被定位于常染色体13q~(14)以来,全世界已发现该基因外显子、外显子/内含子及5端侧翼区突变189种。2001年9月以来,我们在既往对WD患者进行聚合酶链式反应-单链构象多态性(PCR-SSCP)研究的基础上,采用PCR产物直接测序技术对11个家系32名成员进行8、9号外显子的检测。现报告如下。 Wilson’s disease, also known as Wilson’s disease (WD), is an autosomal recessive disorder that occurs in adolescents and is characterized by copper metabolic disorders. Since the WD gene was located on autosome 13q ~ (14) in 1993, 189 exons, exons / introns and five terminal flanking regions have been found in the world. Since September 2001, based on our previous studies on polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) in patients with WD, PCR-based direct sequencing was performed on 32 members of 11 families , 9 exon detection. The report is as follows.