中国人肝豆状核变性基因（ATP7B）第16号外显子的突变特征

为探讨中国人肝豆状核变性基因（ATP7B）第16号外显子的突变特征，应用聚合酶链反应-单链构象多态（PCR－SSCP）技术对无亲缘关系的44例肝豆状核变性患者和60名正常人的ATP7B基因第16号外显子，进行了突变及多态的筛查。发现3例患者具有与正常对照不同的单链构象，进一步经DNA测序证实其中2例发生了Ileull48Thr突变，另回例发生Glull73Lys突变。上述突变均为国际上未报道过的新型错上突变。此外，还发现2种多态现象，其中Valll40Ala与文献报道一致，而3498C—T的改变则是一种本报道过的新多态、表明中国人ATP7B基因第16号外星子的突变性质与西方人具有差异性。

THE CHARACTERISTICS OF MUTATION OF THE WILSON DISEASE GENE (ATP7B) EXON16 IN CHINESE

To study the characteristics of mutation of exon 16 in the Wilson disease (WD) gene (ATP7B) in Chinese, we screened the mutations and polymorphisms of exon 16 by polymerase chain reactionsingle strand conformation polymorphism(PCR-SSCP) in 44 unrelated WD patients and 60 normal controls.The shifted fragments were further confirmed by direct DNA sequence analysis. We found two patients were heterozygous for lleu1148Thr and one was heterozygous for Glu1173Lys mutation. These two mutations were both identified as novel missense mutations. In addition,we identified two polymorphisms. 3498C-T change are novel and Val1140AIa has been described previously. The result indicates the feature of mutation of exon 16 in ATP7B gene is different between Chinese and Western.