家族性高胆固醇血症分子遗传学诊断的过去、现在和未来

Q Medicine Clinical Lipidology Pub Date : 2015-10-01 DOI:10.2217/clp.15.29

E. Thomas

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引用次数: 0

摘要

家族性高胆固醇血症(FH)是最常见的单基因脂质代谢疾病。确定FH的遗传原因影响患者及其家庭成员的管理。传统的基因检测方法受到吞吐量和成本的限制，因此大多数患者没有接受分子诊断。基因检测技术近年来取得了巨大进步，这些进步现在正在转化为改善包括FH在内的许多遗传疾病的临床诊断检测。这篇综述描述了基因检测的这些进展，并考虑了它们对FH诊断和治疗的意义。

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The past, present and future of molecular genetic diagnosis in familial hypercholesterolemia

Abstract Familial hypercholesterolemia (FH) is the most common single gene disorder of lipid metabolism. Identifying the genetic cause of FH affects the management of the patient and their family members. Traditional genetic testing methods have been limited by throughput and cost, and therefore the majority of patients have not received a molecular diagnosis. Genetic testing technology has made huge advances in recent years, and these advances are now being translated to improve clinical diagnostic testing for many genetic disorders including FH. This review describes these advances in genetic testing, and considers their implications for the diagnosis and treatment of FH.

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来源期刊

Clinical Lipidology 生物-生化与分子生物学

CiteScore

0.44

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： The Journal of Clinical Lipidology is published to support the diverse array of medical professionals who work to reduce the incidence of morbidity and mortality from dyslipidemia and associated disorders of lipid metabolism. The Journal''s readership encompasses a broad cross-section of the medical community, including cardiologists, endocrinologists, and primary care physicians, as well as those involved in the treatment of such disorders as diabetes, hypertension, and obesity. The Journal also addresses allied health professionals who treat the patient base described above, such as pharmacists, nurse practitioners and dietitians. Because the scope of clinical lipidology is broad, the topics addressed by the Journal are equally diverse. Typical articles explore lipidology as it is practiced in the treatment setting, recent developments in pharmacological research, reports of treatment and trials, case studies, the impact of lifestyle modification, and similar academic material of interest to the practitioner. While preference is given to material of immediate practical concern, the science that underpins lipidology is forwarded by expert contributors so that evidence-based approaches to reducing cardiovascular and coronary heart disease can be made immediately available to our readers. Sections of the Journal will address pioneering studies and the clinicians who conduct them, case studies, ethical standards and conduct, professional guidance such as ATP and NCEP, editorial commentary, letters from readers, National Lipid Association (NLA) news and upcoming event information, as well as abstracts from the NLA annual scientific sessions and the scientific forums held by its chapters, when appropriate.