The example of the hemoglobinopathies

Joanne Traeger-Synodinos, Christina Vrettou and Emmanuel Kanavakis

17.1 Introduction to prenatal diagnosis (PND) in clinical genetics 301

17.2 Classic mutation detection methods for prenatal diagnosis of monogenic diseases and best practice guidelines 302

17.2.1 Classic mutation detection methods 302

17.2.2 Best practice guidelines for prenatal diagnosis 302

17.3 Sources of fetal samples for prenatal diagnosis 303

17.4 Real-time PCR protocols for PND and PGD applied to the hemoglobinopathies - background and design of protocols 303

17.4.1 Real-time PCR and allele discrimination using the LightCycler® (system 1.0 or 1.5) 303

17.4.2 Molecular basis of P-hemoglobinopathies 304

17.4.3 Principles behind design of LightCycler® probe sets and assays in the P-globin gene (appropriate for Systems 1.0 and 1.5) 304

17.4.4 Additional considerations in design of single-cell genotyping for PGD using real-time PCR 307

17.4.5 Potential advantages of real-time PCR protocols for PND and PGD 307

References 309

Protocol 17.1 310

Protocol 17.2 312

Protocol 17.3 314

Protocol 17.4 315

Protocol 17.5 320

Protocol 17.6 323

Protocol 17.7 325

Protocol 17.8 326

Index 329

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