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Preimplantation genetic diagnosis of alpha-thalassemia-SEA using novel multiplex fluorescent PCR.
J Assist Reprod Genet. 2012 Jan; 29(1):95-102.JA

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.

Authors+Show Affiliations

Preimplantation Genetic Diagnosis Center, Department of Obstetrics and Gynaecology, Faculty of Medicine, Chiang Mai University, 110 Intawaroros Road, Sripoom, Mueang, Chiang Mai, 50200, Thailand. wpiyamon@mail.med.cmu.ac.thNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

21964516

Citation

Piyamongkol, Wirawit, et al. "Preimplantation Genetic Diagnosis of alpha-thalassemia-SEA Using Novel Multiplex Fluorescent PCR." Journal of Assisted Reproduction and Genetics, vol. 29, no. 1, 2012, pp. 95-102.
Piyamongkol W, Vutyavanich T, Sanguansermsri T. Preimplantation genetic diagnosis of alpha-thalassemia-SEA using novel multiplex fluorescent PCR. J Assist Reprod Genet. 2012;29(1):95-102.
Piyamongkol, W., Vutyavanich, T., & Sanguansermsri, T. (2012). Preimplantation genetic diagnosis of alpha-thalassemia-SEA using novel multiplex fluorescent PCR. Journal of Assisted Reproduction and Genetics, 29(1), 95-102. https://doi.org/10.1007/s10815-011-9641-6
Piyamongkol W, Vutyavanich T, Sanguansermsri T. Preimplantation Genetic Diagnosis of alpha-thalassemia-SEA Using Novel Multiplex Fluorescent PCR. J Assist Reprod Genet. 2012;29(1):95-102. PubMed PMID: 21964516.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Preimplantation genetic diagnosis of alpha-thalassemia-SEA using novel multiplex fluorescent PCR. AU - Piyamongkol,Wirawit, AU - Vutyavanich,Teraporn, AU - Sanguansermsri,Torpong, Y1 - 2011/10/01/ PY - 2011/07/14/received PY - 2011/09/14/accepted PY - 2011/10/4/entrez PY - 2011/10/4/pubmed PY - 2012/6/23/medline SP - 95 EP - 102 JF - Journal of assisted reproduction and genetics JO - J. Assist. Reprod. Genet. VL - 29 IS - 1 N2 - 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. SN - 1573-7330 UR - https://www.unboundmedicine.com/medline/citation/21964516/Preimplantation_genetic_diagnosis_of_alpha_thalassemia_SEA_using_novel_multiplex_fluorescent_PCR_ L2 - https://doi.org/10.1007/s10815-011-9641-6 DB - PRIME DP - Unbound Medicine ER -