Rapid and Sensitive Detection of Heterozygous Deletions of one or more Exons in Hemophilia A Females by Multiplex PCR and DHPLC Technique

Author(s):  
A. Pavlova ◽  
J. Schröder ◽  
D. Delev ◽  
C. R. Müller ◽  
E. Seifried ◽  
...  
2008 ◽  
Vol 54 (1) ◽  
pp. 123-128 ◽  
Author(s):  
Tomoaki Ichijo ◽  
Nobuyasu Yamaguchi ◽  
Katsuji Tani ◽  
Masao Nasu

2012 ◽  
Vol 65 (1) ◽  
pp. 44-53 ◽  
Author(s):  
B. Padmavathy ◽  
R. Vinoth Kumar ◽  
Amee Patel ◽  
S. Deepika Swarnam ◽  
T. Vaidehi ◽  
...  

2009 ◽  
Vol 24 (6) ◽  
pp. 1737-1743 ◽  
Author(s):  
Bruno Elsholz ◽  
Andreas Nitsche ◽  
John Achenbach ◽  
Heinz Ellerbrok ◽  
Lars Blohm ◽  
...  

2005 ◽  
Vol 53 (3) ◽  
pp. 277-280 ◽  
Author(s):  
Diana Tomi ◽  
Georg Griesinger ◽  
Askan Schultze-Mosgau ◽  
Juliane Eckhold ◽  
Beate Schöpper ◽  
...  

Preimplantation genetic diagnosis (PGD) is usually performed on blastomeres. In Germany, the only possibility to perform PGD is by analysis of polar bodies. We performed PGD using polar bodies in a woman who is a carrier of hemophilia A. Multiplex PCR followed by nested fluorescent PCR for five linked polymorphic markers was established. From 11 analyzed polar bodies, only 1 showed alleles linked to the mutation. The corresponding oocyte was transferred and no pregnancy was established. As seen in other investigations, the rate of heterozygous first polar bodies is surprisingly high.


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