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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。
To investigate the mutation of exon 16 of Chinese Wilson’s disease-associated gene (ATP7B), 44 cases of unrelated hepatofugal nuclei were detected by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) Mutations and polymorphisms were screened for exon 16 of the ATP7B gene in patients with degeneration and 60 normal subjects. Three patients were found to have a different single-stranded conformation than the normal control. Further DNA sequencing confirmed that two cases of Ileull48Thr mutation, and the other case of Glull73Lys mutation. The above mutations are not reported on the new international class of mutations. In addition, two polymorphic phenotypes were found, among which Valll40Ala was reported in the literature, while the change of 3498C-T was a new polymorphism reported in this paper. It indicated that the mutation nature of Chinese ATP7B gene no. Differences.