Advantages of multiple markers and polar body analysis in preimplantation genetic diagnosis for Alagille disease

2007 ◽  
Vol 27 (4) ◽  
pp. 317-321 ◽  
Author(s):  
P. Renbaum ◽  
B. Brooks ◽  
Y. Kaplan ◽  
T. Eldar-Geva ◽  
E J. Margalioth ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Polar Body ◽  
Genetic Diagnosis ◽  
Multiple Markers ◽  
Polar Body Analysis

Three births after preimplantation genetic diagnosis for cystic fibrosis with sequential first and second polar body analysis

1998 ◽  
Vol 178 (6) ◽  
pp. 1298-1306 ◽  
Author(s):  
Charles M. Strom ◽  
Norman Ginsberg ◽  
Svetlana Rechitsky ◽  
Jeanine Cieslak ◽  
Victor Ivakhenko ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Preimplantation Genetic Diagnosis ◽  
Polar Body ◽  
Genetic Diagnosis ◽  
Polar Body Analysis ◽  
Second Polar Body

scholarly journals First pregnancy and life after preimplantation genetic diagnosis by polar body analysis for mucopolysaccharidosis type I

2006 ◽  
Vol 12 (2) ◽  
pp. 215-220 ◽  
Author(s):  
Diana Tomi ◽  
Askan Schultze-Mosgau ◽  
Juliane Eckhold ◽  
Beate Schopper ◽  
Safaa Al-Hasani ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Polar Body ◽  
Genetic Diagnosis ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
Polar Body Analysis

scholarly journals Real-time reverse linkage using polar body analysis for preimplantation genetic diagnosis in female carriers of de novo mutations

2009 ◽  
Vol 24 (12) ◽  
pp. 3225-3229 ◽  
Author(s):  
G. Altarescu ◽  
T. Eldar-Geva ◽  
I. Varshower ◽  
B. Brooks ◽  
E. Z. Haran ◽  
...  
Keyword(s):  
Real Time ◽  
Preimplantation Genetic Diagnosis ◽  
De Novo ◽  
Polar Body ◽  
Genetic Diagnosis ◽  
De Novo Mutations ◽  
Polar Body Analysis ◽  
Female Carriers

scholarly journals Rapid protocol for pre-conception genetic diagnosis of single gene mutations by first polar body analysis: a possible solution for the Italian patients

2007 ◽  
Vol 28 (1) ◽  
pp. 62-64 ◽  
Author(s):  
F. Fiorentino ◽  
A. Biricik ◽  
A. Nuccitelli ◽  
R. De Palma ◽  
S. Kahraman ◽  
...  
Keyword(s):  
Single Gene ◽  
Polar Body ◽  
Genetic Diagnosis ◽  
Gene Mutations ◽  
First Polar Body ◽  
Polar Body Analysis

scholarly journals Polar Body Diagnosis for Hemophilia A Using Multiplex PCR for Linked Polymorphic Markers

2005 ◽  
Vol 53 (3) ◽  
pp. 277-280 ◽  
Author(s):  
Diana Tomi ◽  
Georg Griesinger ◽  
Askan Schultze-Mosgau ◽  
Juliane Eckhold ◽  
Beate Schöpper ◽  
...  
Keyword(s):  
Multiplex Pcr ◽  
Preimplantation Genetic Diagnosis ◽  
Hemophilia A ◽  
Polar Body ◽  
Genetic Diagnosis ◽  
Polymorphic Markers ◽  
Polar Bodies ◽  
Fluorescent Pcr ◽  
Polar Body Diagnosis

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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