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Can I read Preimplantation Genetic Diagnosis in 10 Couples at Risk for Transmitting β-Thalassaemia Major: Clinical Experience Including the Initiation of Six Singleton Pregnancies on EtoBox?
Preimplantation Genetic Diagnosis in 10 Couples at Risk for Transmitting β-Thalassaemia Major: Clinical Experience Including the Initiation of Six Singleton Pregnancies by Emmanuel Kanavakis; Christina Vrettou; Giles Palmer; Maria Tzetis; Minas Mastrominas; Joanne Traeger-Synodinos is a Medicine article available to read on EtoBox.
What is Preimplantation Genetic Diagnosis in 10 Couples at Risk for Transmitting β-Thalassaemia Major: Clinical Experience Including the Initiation of Six Singleton Pregnancies about?
Preimplantation genetic diagnosis (PGD) offers couples at risk for transmitting an inherited disorder the possibility to avoid the need to terminate affected pregnancies, since it allows the selection of unaffected IVF embryos for transfer. PGD for monogenic diseases is most commonly accomplished by blastomere biopsy from cleavage stage embryos, followed by polymerase chain reaction (PCR)-based DNA analysis. However, PCR-based DNA analysis of single cells is subject to several problems including sample contamination, total PCR failure, or failure of one allele to amplify-a phenomenon known as allelic drop-out (ADO). Furthermore, the molecular heterogeneity of many monogenic diseases requires a diagnostic strategy capable of detecting a spectrum of mutations and compound genotypes. With the above considerations we developed an accurate and reliable strategy for analysis of -globin gene mutations, applicable for PGD for the wide spectrum of -thalassaemia major genotypes in the Greek population. The strategy involves nested PCR followed by denaturing gradient gel electrophoresis (DGGE) analysis. DGGE is an advantageous method for mutation detection since it facilitates simultaneous an
Who reads Preimplantation Genetic Diagnosis in 10 Couples at Risk for Transmitting β-Thalassaemia Major: Clinical Experience Including the Initiation of Six Singleton Pregnancies?
It is typically read by researchers, students, and practitioners in Medicine.
- Author
- Emmanuel Kanavakis; Christina Vrettou; Giles Palmer; Maria Tzetis; Minas Mastrominas; Joanne Traeger-Synodinos
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley; Research Square (ISSN 0197-3851)
- Published
- 1999
- Language
- EN
- Field
- Medicine (Health Sciences)