疾病的遗传基础。

School of Medicine, Dentistry and Nursing, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, U.K.

School of Life Sciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, U.K.

Essays Biochem. 2018 Dec 2;62(5):643-723. doi: 10.1042/EBC20170053. Print 2018 Dec 3.

Genetics plays a role, to a greater or lesser extent, in all diseases. Variations in our DNA and differences in how that DNA functions (alone or in combinations), alongside the environment (which encompasses lifestyle), contribute to disease processes. This review explores the genetic basis of human disease, including single gene disorders, chromosomal imbalances, epigenetics, cancer and complex disorders, and considers how our understanding and technological advances can be applied to provision of appropriate diagnosis, management and therapy for patients.

遗传在所有疾病中或多或少都起着一定作用。我们 DNA 的变异以及该 DNA 功能（单独或组合）的差异，再加上环境（包括生活方式），共同导致了疾病的发生。本文探讨了人类疾病的遗传基础，包括单基因疾病、染色体不平衡、表观遗传学、癌症和复杂疾病，并考虑了我们的理解和技术进步如何应用于为患者提供适当的诊断、管理和治疗。