Nghiên cứu đột biến gen ATP7B ở bệnh nhân Wilson tại Bệnh viện Chợ Rẫy

Objectives: the objective of this study was to determine all kinds of mutation on 21 exons of ATP7B gene and the rate of these mutations in Wilson diseased patients. Patients and methods: A cross- sectional study was conducted on 10 patients with Wilson disease diagnosed basing on standards of Ferenci criteria. The study was performed at Cho Ray hospital, Ho Chi Minh city. ATP7B gene were analyzed by direct sequencing of exon 121. Analysing sequence on exons and comparison of these exons to database from NCBI to determine all kinds of mutation of ATP7B gene and the rate of these mutations. Results: In group of 10 patients, there are 4 males, 6 females. The youngest patient is 15 years old, the oldest one is 3.5. According to the clinical presentation, there are 7 patients with hepatic Wilson disease, 2 patients with hepaticneurologic Wilson disease and 1 patient with hepatic-hematic Wilson disease. The rate of these mutation on exon 1-21 are 80 percent, including inserted mutation c.525-526insA (45 percent), missense mutation c.2333GT (25 percent) and c.2705TC (10 percent). Conclusions: There are 3 kinds of ATP7B gene mutations including inserted mutation c.525-526insA, missense mutation c.2333GT and c.2705TC. The rate of these mutations is 45 percent, 25 percent and 10 percent respectively.