tailieunhanh - Ứng dụng công nghệ giải trình tự gen thế hệ mới trong nghiên cứu di truyền bệnh rối loạn chu trình chuyển hóa urê

Rối loạn chu trình chuyển hóa urê (UCD) là rối loạn chuyển hóa bẩm sinh, hiếm gặp, gây ra do đột biến trên các gen mã hóa cho 6 enzyme: Carbamoyl phosphate synthase I (CPSI), ornithine transcarbamylase (OTC), argininosuccinate synthase (ASS1), argininosuccinate lyase (ASL), arginase (ARG1), N-acetyl glutamate synthase (NAGS) và 2 hệ thống vận chuyển, ornithine translocase (ONT1), citrin, của chu trình chuyển hóa urê. Bài viết này hệ thống các kết quả đạt được khi sử dụng NGS trong nghiên cứu di truyền bệnh UCD, cung cấp cơ sở cho công tác chẩn đoán và nghiên cứu. | VNU Journal of Science Natural Sciences and Technology Vol. 37 No. 2 2021 1-13 Review Article Application of Next Generation Sequencing Genetic Studies of Urea Cycle Disorders Nguyen Thi Thu Huong1 2 3 Nguyen Thi Kim Lien1 2 Nguyen Huy Hoang1 2 1 Vietnam Academy of Science and Technology 18 Hoang Quoc Viet Hanoi Vietnam 2 Graduate University of Science and Technology 18 Hoang Quoc Viet Hanoi Vietnam 3 Hong Duc University 565 Quang Trung Thanh Hoa Vietnam Received 18 March 2021 Revised 02 June 2021 Accepted 24 June 2021 Abstract Urea cycle disorder is a group of rare inherited metabolic disorders in the pathway transforming ammonia to urea. The mutations in genes coding for 6 enzymes that are participated including carbamoyl phosphate synthase I CPSI ornithine transcarbamylase OTC argininosuccinate synthase ASS1 argininosuccinate lyase ASL arginase ARG1 and N-acetyl glutamate synthase NAGS and 2 transport systems ornithine translocase ONT1 citrin in the urea cycle are responsible for ammonia accumulation in the blood. Hyperammonemia is the cause of severe neurological symptoms and even death. In almost all cases clinical examinations and biochemical experiments are necessary but insufficient information for an accurate diagnosis. Mutation analysis is an effective method to confirm the diagnosis and could be the basis for genetic counseling. The rapid development and widely using of next generation sequencing NGS have brought incredible advances in molecular diagnosis of genetic diseases in general. In this article we systematize the UCD genetic studies applying NGS method thereby providing a basis for not only disease diagnosis but also future research. Keyworsds Genetic Diseases Mutations Next Generation Sequencing NGS Urea Cycle Disorder UCD Variantions _ Corresponding Authors Email address nhhoang@ https 2588-1140 1 2 . Huong et al. VNU Journal of Science Natural Sciences and Technology Vol. 37 No. 2 2021 1-13 Ứng dụng