肝豆状核变性的临床表型与ATP7B基因第8外显子突变的关系

目的探讨WD患者临床分型和ATP7B基因8号外显子基因突变类型之间的关系。方法对60例首次住院的WD患者进行临床分型,用PCR-酶切法检测60例住院病人和20例健康对照者的ATP7B基因第8外显子的突变率和突变类型。结果典型肝豆状核变性型15例,突变率40%;扭转痉挛型13例,突变率30.8%;假性硬化型19例,突变率31.6%;内脏型与脑-内脏混合型13例,突变率61.5%。各患者组间第8号外显子的突变率无显著性差异,患者各组与正常组间有极显著性差异。结论8号外显子突变是WD的发病原因之一。

Correlation between clinical phenotype of hepatolenticular degeneration and mutation of exon8 in ATP7B gene

Objective To study on the correlation between clinical phenotype of hepatolenticular degeneration and mutation of exon8 in ATP7B gene. Methods The clinical phenotype was maked in 60 patients with hepatolenticular degeneration(HD), which were in hospital for the first time. Exon8 was amplified by PCR and was analyzed by digestion with restriction enzymes MspI and TaiI. 60 patients and 20 normal controls were screened with this method. Results The mutation rate was 30.8% in torsion spasm group, 31.6% in pseudosclerosis group, and 61.5% in brain group and brain-viscus group. The mutation rate of typical HD was 40%. The mutation rate of exon8 between all above groups showed no difference. Between the HD patients group and normal controls group, the high significant difference on the mutation rate of exon8 was found. Conclusion The mutation of exon8 is one of the reason for HD.