中华医学杂志（英文版）2011，Vol.124Issue(6)：930-934,5.DOI:10.3760/cma.j.issn.0366-6999.2011.06.023
Molecular analysis for diagnosis of Marfan syndrome and Marfan-associated disorders
Molecular analysis for diagnosis of Marfan syndrome and Marfan-associated disorders
GAO Ling-gen 1YAO Xiu-ping 2ZHANG Lin 3HUI Ru-tai 1ZHOU Xian-liang1
作者信息
- 1. Department of Cardiology, Fuwai Hospital and Cardiovascular Institute,Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China
- 2. Department of Very Important Person Health Care, General Hospital of Beijing Armed Police For
- 3. Department of Very Important Person Health Care, General Hospital of Chinese People's Armed Police Forces, Beijing 100039, China
- 折叠
摘要
Abstract
Marfan syndrome is a systemic disorder of connective tissue, caused by mutations in the FBN1, TGFBR1 or TGFBR2 genes. This syndrome is characterized by involvement of three major systems, skeletal, ocular, and cardiovascular. The continuing improvements in molecular biology and increasing availability of molecular diagnosis in clinical practice allow recognition of Marfan syndrome in patients with incomplete phenotypes. Additionally, molecular analyses could also be used for preimplantation genetic diagnosis. The identification of a mutation allows for early diagnosis, prognosis, genetic
counseling, preventive management of carriers and reassurance for unaffected relatives. The importance of knowing in
advance the location of the putative family mutation is highlighted by its straightforward application to prenatal and postnatal screening.关键词
Marfan syndrome/molecular analysis/Marfan-associated disordersKey words
Marfan syndrome/molecular analysis/Marfan-associated disorders引用本文复制引用
GAO Ling-gen,YAO Xiu-ping,ZHANG Lin,HUI Ru-tai ,ZHOU Xian-liang..Molecular analysis for diagnosis of Marfan syndrome and Marfan-associated disorders[J].中华医学杂志（英文版）,2011,124(6):930-934,5.
