Prenatal and presymptomatic diagnosis of the Marfan syndrome using fluorescence PCR and an automated sequencer.
Prenatal and presymptomatic diagnosis of the Marfan syndrome using fluorescence PCR and an automated sequencer.
复制标题
使用荧光 PCR 和自动测序仪对马凡综合征进行产前和症状前诊断。
DOI：
10.1002/pd.1970150602
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发表时间：
1995
影响因子：
3
通讯作者：
Godfrey,M
中科院分区：
文献类型：
--
作者：
Wang,M;Mata,J;Price,CE;Iversen,PL;Godfrey,M
马凡氏综合征（MFS）是一种遗传性结缔组织疾病，以骨骼、眼部和心血管异常为特征。目前已知，弹性蛋白相关微纤维蛋白-由于发现了MFS的基因，产前和症状前诊断的要求已成为常见的地方。在这里，我们报告使用聚合酶链反应（PCR），使用荧光标记的引物和自动测序仪，建立连锁数据的“分子诊断”。MFS的临床诊断错误的基础上出现一个共同的心血管表现，二尖瓣脱垂，并积极的家族史进行了讨论。
The Marfan syndrome (MFS) is a heritable connective tissue disorder characterized by skeletal, ocular, and cardiovascular abnormalities. Defects in fibrillin, an elastin‐associated microfibrillar protein, are now known to cause MFS. Since the discovery of fibrillin as the gene responsible for MFS, requests for prenatal and presymptomatic diagnosis have become common‐place. Here we report the use of the polymerase chain reaction (PCR), using fluorescence labelled primers and an automated sequencer, to establish linkage data for “molecular diagnosis”. The mistaken clinical diagnosis of MFS based on the appearance of a common cardiovascular manifestation, mitral valve prolapse, and a positive family history is also discussed.