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Koehler U et al.  
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

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Abbildung
 
Polar body diagnosis for haemophilia A
Abbildung 1: Polar body diagnosis for haemophilia A: fragment length analysis of amplified polymorphic markers of the carrier mother and of PB I and PB II. Arrows indicate polymorphic marker alleles linked to the mutation. The detection of the wild type haplotype in PB I and the haplotype linked to the mutation in PB II indicates the presence of the mutation in the oocyte.


Keywords: haemophilia APGD
 
 
Polar body diagnosis of haemophilia A
Abbildung 2: Polar body diagnosis of haemophilia A: The pedigree shows PCR product sizes (in bp) of five polymorphic markers linked to the F8 gene. Red PCR products are linked to the mutation, green and blue ones are linked to the wild type. As an example, the result of the fragment length analysis is shown for an affected oocyte indicated by the result of PB I (blue) and PB II (red).


Keywords: haemophilia APCRPGDpolymorphic markers
 
 
PGD for Spinal Muscular Atrophy, SMA
Abbildung 3: 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.


Keywords: PGDSMA
 
 
PGD for Spinal Muscular Atrophy, SMA
Abbildung 4: PGD for Spinal Muscular Atrophy, SMA. DNA sequence analysis for amplification products of exon 7 in mother, father, affected son and two trophectoderm biopsies (TE1, TE2). The mother and father are heterozygous for the nucleotide (C or T) in exon 7 corresponding to the presence of gene copies of SMN1 and SMN2. The son shows only the T-nucleotide of the SMN2 gene and thus carries a homozygous deletion in SMN1. Both TE samples show both nucleotides at this base position, indicating that the blastocysts are either wild type or heterozygous carriers of the deletion.


Keywords: PGDSMA
 
 
PGD for Spinal Muscular Atrophy, SMA
Abbildung 5: PGD for Spinal Muscular Atrophy, SMA. Pedigree illustrating allele sizes of two microsatellite markers linked to SMN1 and SMN2. Blue and green alleles are linked to the mutation, the orange and red ones to the wild type.


Keywords: PGDSMA
 
 
Array CGH profile
Abbildung 6: Array CGH profile of an unbalanced rearrangement of chromosomes 7 and 12 after PGD of a trophectoderm sample (TE1).


Keywords: array-CGH
 
 
Array CGH profile
Abbildung 7: Array CGH profile of an aneuploid (trisomy 18) of another trophectoderm sample (TE2) of the same cycle.


Keywords: aneuploidarray CGH
 
 
Array CGH profile
Abbildung 8: Array CGH profile of a balanced, euploid trophectoderm sample (TE3) of the same cycle.


Keywords: array CGHeuploid
 
 
 
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