天津地区汉族肝豆状核变性患者ATP7B基因突变热区的检测

Screen for hot point mutations of ATP7B gene in Tianjin Han patients with hepatolenticular degeneration

目的:检测天津地区汉族肝豆状核变性(Hepatolenticular Degeneration,HLD)患者ATP7B基因的突变热区。方法:对91名HLD患者和80名对照人群提取基因组DNA,PCR扩增ATP7B基因8号和14号外显子,扩增产物分别进行MspI酶切反应和SSCP分析,异常者进一步行DNA序列分析。结果:在91名HLD患者中,66人存在8号外显子Arg778Leu纯合或杂合突变,而对照组未检出此突变;14号外显子病例组和对照组均未检出突变。结论:Arg778Leu是天津地区汉族HLD患者的高频突变点。

Objective To screen for hot point mutations of ATP7B gene in Tianjin Han patients with hepatolenticular degeneration(HLD). Methods The genomic DNA of 91 HLD patients and 80 normal controls were extractedand exon 8 and 14 of ATP7B gene were amplified by polymerase chain reactionPCR.The amplification were analyzed by digestion with MspI and by single strand conformation polymorphism SSCP respectivelyand were followed by DNA sequencing if there were mutations. Results 66 out of 91 patients with HLD had homozygous or heterozygous Arg778Leu mutation in exon 8 of ATP7B gene while no control had such mutation.Both patients and controls had no mutation in exon 14. Conclusion Arg778Leu is the hot point mutation of ATP7B gene in Tianjin Han patients with HLD.