首页   按字顺浏览 期刊浏览 卷期浏览 Preimplantation Genetic Diagnosis in Marfan Syndrome
Preimplantation Genetic Diagnosis in Marfan Syndrome

 

作者: Michael W. Kilpatrick,   Gary L. Harton,   Leonidas A. Phylactou,   Gene Levinson,   Edward F. Fugger,   Joseph D. Schulman,   Susan H. Black,   Petros Tsipouras,  

 

期刊: Fetal Diagnosis and Therapy  （Karger Available online 1996）
卷期: Volume 11, issue 6  

页码: 402-406

 

ISSN:1015-3837

 

年代: 1996

 

DOI:10.1159/000264355

 

出版商: S. Karger AG

 

关键词: Fibrillin 1;Linkage studies;Marfan syndrome;Preimplantation diagnosis

 

数据来源: Karger

 

摘要:

The in vitro fertilization technology coupled with the ability to amplify DNA from a single cell has been used for the preimplantation genetic diagnosis of Marfan syndrome. An intragenic FBNl gene marker has been used to track the inheritance of this disorder in a family. Marker genotyping was established following two rounds of amplification. Whenever possible, two blastomeres were separately assayed per embryo. The transfer of five embryos resulted in a singleton pregnancy and the birth of a full-term male infant.

 

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