1. Singleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplification.
- Author
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Chow JF, Yeung WS, Lau EY, Lam ST, Tong T, Ng EH, and Ho PC
- Subjects
- Adult, Female, Humans, Huntington Disease embryology, Live Birth, Male, Genome, Human genetics, Huntington Disease diagnosis, Huntington Disease genetics, Nucleic Acid Amplification Techniques methods, Preimplantation Diagnosis methods
- Abstract
Objective: To report a successful case of preimplantation genetic diagnosis (PGD) for Huntington disease using whole genome amplification., Design: Case report., Setting: University assisted reproduction unit., Patient(s): A couple with family history of Huntington disease: The husband was carrying the expanded allele of the IT15 gene, and the wife had the normal allele., Intervention(s): Preimplantation genetic diagnosis with whole genome amplification for identification of genetically normal embryos., Main Outcome Measure(s): Live birth., Result(s): In an IVF cycle, 15 oocytes were retrieved, of which 13 were mature and 11 were fertilized. On day 3, embryo biopsy and PGD were performed on ten good-quality embryos. Multiple displacement amplification was conducted, followed by polymerase chain reaction with fluorescence primers. Three pairs of primers were used for the amplification of the IT15 gene at the: 1) trinucleotide expansion site; 2) trinucleotide expansion site plus the polymorphic site situated on its 3'-end; and 3) polymorphic marker located downstream of the trinucleotide repeats. Two normal blastocysts were replaced on day 5 and another two good-quality blastocysts were cryopreserved. The woman gave birth to a normal baby girl whose normal genetic status was confirmed by prenatal diagnosis., Conclusion(s): Whole genome amplification by multiple displacement amplification can be used for PGD of Huntington disease.
- Published
- 2009
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