Gene Analysis And Gene Diagnosis Of Wilson Disease

Aim To study a cohort of 37 Chinese Han people with Wilson disease to illuminate the role of ATP7B and COMMD1 in the pathogenesis of WD as well as the influence to clinical manifestation diversity in WD. Methods The three exons of the COMMD1 gene including the intron–exon boundaries and hot area of ATP7B gene were amplified by polymerase chain reaction (PCR) and analyzed by direct sequencing. Results Our study detected ATP7B Arg778Leu mutation in 12 patients, 9 of them show liver symptom at the onset of disease. Thr935Met were detected in 2 patients. We did not reveal any mutations leading to an amino acid or splicing site change in the COMMD1 sequence. A polymorphism at IVS2+63C>G was confirmed. Conclusions There is no evidence to support that there is a correlation between the COMMD1 gene and WD in patients of Chinese Han population. ATP7B is the only disease causing gene of WD. ATP7B Arg778Leu mutation is associated with the onset of liver symptom Aim 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. Design and Method 4-primer ARMS- PCR was performed to screen the Arg778Leu mutation in 37 unrelated WD patients and 30 unrelated healthy controls. And direct sequencing was used to confirm the results specific amplification products. Results PCR products were visualized on agarose gel electrophoresis. Among the 37 WD patients, 3 were homozygous and 9 were heterozygous for this mutation. The mutation rate was totally 32.43%(12/37).The results of direct sequencing completely consisted with the results of 4-primer ARMS- PCR. Conclusions The ATP7B Arg778Leu gene mutation was a hot spot in Chinese WD patients. 4-primer ARMS- PCR is a faster, convenient and accurate method for typing mutation in high throughput population screening. This approach can be used to detect other point mutations.