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Preimplantation genetic diagnosis of alpha-thalassemia-SEA using novel multiplex fluorescent PCR

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

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-SEA mutation, 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-SEA mutation 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-SEA mutation is reported. This test should be widely applicable. Interestingly, a potential effect of alpha-thalassemia-SEA mutation on preimplantation embryonic development was noticed.

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Acknowledgements

This project was supported by the National Research Council of Thailand, the Thailand Research Fund, the Commission on Higher Education (grant no. MRG4980077) and Eisai (Thailand) Marketing Co., Ltd. Ovarian induction drugs were sponsored by MSD (Thailand) Ltd.

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Authors and Affiliations

  1. Preimplantation Genetic Diagnosis Center, Department of Obstetrics and Gynaecology, Faculty of Medicine, Chiang Mai University, 110 Intawaroros Road, Sripoom, Mueang, Chiang Mai, 50200, Thailand

    Wirawit Piyamongkol & Teraporn Vutyavanich

  2. Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, 50200, Thailand

    Torpong Sanguansermsri

Authors
  1. Wirawit Piyamongkol
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  2. Teraporn Vutyavanich
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  3. Torpong Sanguansermsri
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Corresponding author

Correspondence to Wirawit Piyamongkol.

Additional information

Capsule

Novel PGD protocol for alpha-thalassemia-SEA mutation was developed, tested and clinically applied in two PGD cycles resulting in the birth of an un-affected baby.

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Piyamongkol, W., Vutyavanich, T. & Sanguansermsri, T. Preimplantation genetic diagnosis of alpha-thalassemia-SEA using novel multiplex fluorescent PCR. J Assist Reprod Genet 29, 95–102 (2012). https://doi.org/10.1007/s10815-011-9641-6

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  • DOI: https://doi.org/10.1007/s10815-011-9641-6

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