Markus S, Hehr U Genetic Counseling and Testing Prior to Assisted Reproduction Journal für Reproduktionsmedizin und Endokrinologie - Journal of Reproductive Medicine and Endocrinology 2009; 6 (1): 6-10 Volltext (PDF) Summary Praxisrelevanz Übersicht
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Abbildung 4a-b: PCR (a) Electrophoretic separation of a sequencing reaction of a PCR product of exon 10 of the CFTR gene from a heterozygous mutation carrier of the common CFTR mutation DeltaF508. The mutant allele has a deletion of 3 basepairs (CTT), resulting in a deletion of the amino acid phenyl alanine at position 508 of the wildtype CFTR gene product. (b) Electrophoretic separation of the PCR product with the smaller mutant CFTR allele to the left, wildtype allele to the right. |
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Abbildung 4a-b: PCR
(a) Electrophoretic separation of a sequencing reaction of a PCR product of exon 10 of the CFTR gene from a heterozygous mutation carrier of the common CFTR mutation DeltaF508. The mutant allele has a deletion of 3 basepairs (CTT), resulting in a deletion of the amino acid phenyl alanine at position 508 of the wildtype CFTR gene product. (b) Electrophoretic separation of the PCR product with the smaller mutant CFTR allele to the left, wildtype allele to the right. |