Preimplantation genetic diagnosis for myotonic dystrophy type 1: detection of crossover between the gene and the linked marker APOC2
| Autor: | Danny Daphnis, Sarah Gotts, S Nuttall, Sioban SenGupta, A Doshi, S Dhanjal, Georgia Kakourou, Paul Serhal, Joyce C. Harper, Joy D. A. Delhanty |
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| Rok vydání: | 2006 |
| Předmět: |
Adult
Genetic Markers Male Genetic Linkage Biopsy Prenatal diagnosis Fertilization in Vitro Biology Protein Serine-Threonine Kinases Preimplantation genetic diagnosis Myotonic dystrophy Polymerase Chain Reaction Myotonin-Protein Kinase Andrology Genetic linkage Pregnancy medicine Humans Myotonic Dystrophy Crossing Over Genetic Genetic Testing Genetics (clinical) Preimplantation Diagnosis Genetic testing Genetics medicine.diagnostic_test Myotonin-protein kinase Obstetrics and Gynecology Embryo medicine.disease Genetic marker Oocytes Apolipoprotein C-II Female |
| Zdroj: | Prenatal diagnosis. 27(2) |
| ISSN: | 0197-3851 |
| Popis: | Objective To report two cases of preimplantation genetic diagnosis (PGD) for myotonic dystrophy type I (DMI) where cross-over between the DMPK locus and a linked polymorphic marker APOC2 was detected.Methods Embryos from in vitro fertilisation (IVF) were biopsied at day 3 of development and single blastomeres collected. Diagnosis was performed by duplex or triplex fluorescent-polymerase chain reaction (F-PCR) to amplify DMPK and APOC2 loci, or DMPK with APOC2 and D 19S112 polymorphic markers.Results A total of 22 oocytes were retrieved from the two patients, 20 were inseminated of which 15 fertilized (75%) and were suitable for biopsy on day 3. A diagnosis was obtained for 12 embryos (80%) and was confirmed in all un-transferred embryos. Crossover between DMI and APOC2 was detected in two embryos from the two different couples. Transfer of two embryos took place in both cases resulting in two pregnancies. Each couple have had a healthy baby.Conclusion The above cases highlight the importance of using more than one linked polymorphic marker in PGD-PCR protocols and emphasize the danger of using APOC2 as the sole marker to identify the DMI mutation. Copyright (C) 2006 John Wiley & Sons, Ltd. |
| Databáze: | OpenAIRE |
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