Preimplantation genetic diagnosis of alpha-thalassemia -SEA using novel multiplex fluorescent PCR
Purpose: Preimplantation genetic diagnosis (PGD) is an alternative to prenatal diagnosis (PND) giving couples at risk a chance to start a pregnancy with a disease-free baby. This study aimed to develop a new PGD protocol for alpha-thalassemia-SEAmutation, the commonest Mendelian disorder. Patients a...
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th-cmuir.6653943832-514182018-09-04T06:12:27Z Preimplantation genetic diagnosis of alpha-thalassemia -SEA using novel multiplex fluorescent PCR Wirawit Piyamongkol Teraporn Vutyavanich Torpong Sanguansermsri Biochemistry, Genetics and Molecular Biology Medicine Purpose: Preimplantation genetic diagnosis (PGD) is an alternative to prenatal diagnosis (PND) giving couples at risk a chance to start a pregnancy with a disease-free baby. This study aimed to develop a new PGD protocol for alpha-thalassemia-SEAmutation, the commonest Mendelian disorder. Patients and methods: Multiplex fluorescent PCR was employed for mutation, contamination and linkage analysis. A couple experienced termination of pregnancy following positive PND decided to join the project. Results: Novel primers for alpha-thalassemia-SEAmutation amplifying 5 DNA fragments were developed. Two PGD cycles were performed, resulting in an un-affected baby. PND confirmed the heterozygous result. From 24 embryos, 87.5% of affected genotype were of best quality compared to 0% and 18.2% of those with normal and heterozygous, respectively. Conclusions: A novel PCR protocol for the common alpha-thalassemia-SEAmutation is reported. This test should be widely applicable. Interestingly, a potential effect of alpha-thalassemia-SEAmutation on preimplantation embryonic development was noticed. © 2011 Springer Science+Business Media, LLC. 2018-09-04T06:01:41Z 2018-09-04T06:01:41Z 2012-01-01 Journal 15737330 10580468 2-s2.0-84857636780 10.1007/s10815-011-9641-6 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84857636780&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/51418 |
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Biochemistry, Genetics and Molecular Biology Medicine Wirawit Piyamongkol Teraporn Vutyavanich Torpong Sanguansermsri Preimplantation genetic diagnosis of alpha-thalassemia -SEA using novel multiplex fluorescent PCR |
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Purpose: Preimplantation genetic diagnosis (PGD) is an alternative to prenatal diagnosis (PND) giving couples at risk a chance to start a pregnancy with a disease-free baby. This study aimed to develop a new PGD protocol for alpha-thalassemia-SEAmutation, the commonest Mendelian disorder. Patients and methods: Multiplex fluorescent PCR was employed for mutation, contamination and linkage analysis. A couple experienced termination of pregnancy following positive PND decided to join the project. Results: Novel primers for alpha-thalassemia-SEAmutation amplifying 5 DNA fragments were developed. Two PGD cycles were performed, resulting in an un-affected baby. PND confirmed the heterozygous result. From 24 embryos, 87.5% of affected genotype were of best quality compared to 0% and 18.2% of those with normal and heterozygous, respectively. Conclusions: A novel PCR protocol for the common alpha-thalassemia-SEAmutation is reported. This test should be widely applicable. Interestingly, a potential effect of alpha-thalassemia-SEAmutation on preimplantation embryonic development was noticed. © 2011 Springer Science+Business Media, LLC. |
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author |
Wirawit Piyamongkol Teraporn Vutyavanich Torpong Sanguansermsri |
author_facet |
Wirawit Piyamongkol Teraporn Vutyavanich Torpong Sanguansermsri |
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Wirawit Piyamongkol |
title |
Preimplantation genetic diagnosis of alpha-thalassemia -SEA using novel multiplex fluorescent PCR |
title_short |
Preimplantation genetic diagnosis of alpha-thalassemia -SEA using novel multiplex fluorescent PCR |
title_full |
Preimplantation genetic diagnosis of alpha-thalassemia -SEA using novel multiplex fluorescent PCR |
title_fullStr |
Preimplantation genetic diagnosis of alpha-thalassemia -SEA using novel multiplex fluorescent PCR |
title_full_unstemmed |
Preimplantation genetic diagnosis of alpha-thalassemia -SEA using novel multiplex fluorescent PCR |
title_sort |
preimplantation genetic diagnosis of alpha-thalassemia -sea using novel multiplex fluorescent pcr |
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2018 |
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https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84857636780&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/51418 |
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