Polar body diagnosis for hemophilia A using multiplex PCR for linked polymorphic markers

Diana Tomi; Georg Griesinger; Askan Schultze-Mosgau; Juliane Eckhold; Beate Schöpper; Safaa Al-Hasani; Klaus Diedrich; Eberhard Schwinger

doi:10.1369/jhc.4B6393.2005

Polar body diagnosis for hemophilia A using multiplex PCR for linked polymorphic markers

Diana Tomi^*, Georg Griesinger, Askan Schultze-Mosgau, Juliane Eckhold, Beate Schöpper, Safaa Al-Hasani, Klaus Diedrich, Eberhard Schwinger

^*Corresponding author for this work

14 Citations (Scopus)

Abstract

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.

Original language	English
Journal	Journal of Histochemistry and Cytochemistry
Volume	53
Issue number	3
Pages (from-to)	277-280
Number of pages	4
ISSN	0022-1554
DOIs	https://doi.org/10.1369/jhc.4B6393.2005
Publication status	Published - 03.2005

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10.1369/jhc.4B6393.2005

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title = "Polar body diagnosis for hemophilia A using multiplex PCR for linked polymorphic markers",

abstract = "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.",

author = "Diana Tomi and Georg Griesinger and Askan Schultze-Mosgau and Juliane Eckhold and Beate Sch{\"o}pper and Safaa Al-Hasani and Klaus Diedrich and Eberhard Schwinger",

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language = "English",

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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 - https://www.scopus.com/pages/publications/14844293141

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 -

Polar body diagnosis for hemophilia A using multiplex PCR for linked polymorphic markers

Abstract

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