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

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.