ABSTRACT
Objective The aim of this study was to establish a new method for genotyping ATP7B Arg778Leu gene mutation that does not require RFLP PCR or sequencing.Method 4-primer amplification refractory mutation system (ARMS)-PCR was performed to screen the Arg778Leu mutation in 47 unrelated Wilson's disease (WD) patients and 30 unrelated healthy controls.Direct sequencing was used to confirm the specific amplification products.Results PCR products were visualized on agarose gel electrophoresis.Among the 47 WD patients,4 were homozygous and 14 were heterozygous for this mutation.The total mutation rate was 38.3% (18/47).The results of direct sequencing completely consisted with the results of 4-primer ARMS-PCR.Conclusions The ATP7B Arg778Leu gene mutation is a hot spot for the research of Chinese WD patients.4-primer ARMS-PCR is a fast convenient and accurate method for typing mutation in high throughput population screening.This approach can be used to detect other point mutations.