TY - JOUR
T1 - Polar body diagnosis for hemophilia A using multiplex PCR for linked polymorphic markers
AU - Tomi, Diana
AU - Griesinger, Georg
AU - Schultze-Mosgau, Askan
AU - Eckhold, Juliane
AU - Schöpper, Beate
AU - Al-Hasani, Safaa
AU - Diedrich, Klaus
AU - Schwinger, Eberhard
PY - 2005/3
Y1 - 2005/3
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=14844293141&partnerID=8YFLogxK
U2 - 10.1369/jhc.4B6393.2005
DO - 10.1369/jhc.4B6393.2005
M3 - Journal articles
C2 - 15750001
AN - SCOPUS:14844293141
SN - 0022-1554
VL - 53
SP - 277
EP - 280
JO - Journal of Histochemistry and Cytochemistry
JF - Journal of Histochemistry and Cytochemistry
IS - 3
ER -
