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Koehler U, Schoen U, Mayer V, Holinski-Feder E Preimplantation Genetic Diagnosis for Monogenic Disorders and Chromosomal Rearrangements – The German Perspective Journal für Reproduktionsmedizin und Endokrinologie - Journal of Reproductive Medicine and Endocrinology 2013; 10 (Sonderheft 1): 38-44 Volltext (PDF) Summary Übersicht
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Abbildung 3: PGD for Spinal Muscular Atrophy, SMA PGD for Spinal Muscular Atrophy, SMA. Fragment length analysis for multiplex-PCR products of two polymorphic markers generated from DNA of two trophectoderm biopsies (TE1, TE2). Arrows indicate the alleles linked to the mutation. The TE1 sample shows no alleles linked to the mutation, therefore the corresponding embryo is unaffected. TE2 shows one allele linked to the mutation and one allele linked to the wild type, respectively. This embryo is a heterozygous carrier of the mutation. |
Abbildung 3: PGD for Spinal Muscular Atrophy, SMA
PGD for Spinal Muscular Atrophy, SMA. Fragment length analysis for multiplex-PCR products of two polymorphic markers generated from DNA of two trophectoderm biopsies (TE1, TE2). Arrows indicate the alleles linked to the mutation. The TE1 sample shows no alleles linked to the mutation, therefore the corresponding embryo is unaffected. TE2 shows one allele linked to the mutation and one allele linked to the wild type, respectively. This embryo is a heterozygous carrier of the mutation. |