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Birth of healthy children after preimplantation diagnosis of beta-thalassemia by whole-genome amplification.
Prenat Diagn 2003; 23(8):646-51PD

Abstract

Preimplantation genetic diagnosis (PGD) offers couples at risk for transmitting an inherited disorder the possibility to avoid the need to terminate affected pregnancies. PGD for monogenic diseases is most commonly accomplished by blastomere biopsy from cleavage-stage embryos, followed by PCR-based DNA analysis. However, the molecular heterogeneity of many monogenic diseases requires a diagnostic strategy capable of detecting a range of mutations and compound genotypes. With the above considerations, we developed an accurate and reliable strategy for analysis of beta-globin gene mutations, applicable for PGD for the wide spectrum of beta-thalassemia major mutations in the Chinese population. The strategy involves primer-extension preamplification (PEP), followed by nested PCR and reverse dot blot (RDB) for mutation detection since it facilitates simultaneous analysis of more than one mutation in a single cell. This report describes the application of the strategy in two clinical IVF/PGD cycles at risk for transmitting beta-thalassemia major, which resulted in the first thalassemia-free children born after PGD in China.

Authors+Show Affiliations

Reproductive Medical Center, First Affiliated Hospital of Sun Yet-Sen University, Guangzhou, China. zexujiao@yahoo.com.cnNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

12913871

Citation

Jiao, Zexu, et al. "Birth of Healthy Children After Preimplantation Diagnosis of Beta-thalassemia By Whole-genome Amplification." Prenatal Diagnosis, vol. 23, no. 8, 2003, pp. 646-51.
Jiao Z, Zhou C, Li J, et al. Birth of healthy children after preimplantation diagnosis of beta-thalassemia by whole-genome amplification. Prenat Diagn. 2003;23(8):646-51.
Jiao, Z., Zhou, C., Li, J., Shu, Y., Liang, X., Zhang, M., & Zhuang, G. (2003). Birth of healthy children after preimplantation diagnosis of beta-thalassemia by whole-genome amplification. Prenatal Diagnosis, 23(8), pp. 646-51.
Jiao Z, et al. Birth of Healthy Children After Preimplantation Diagnosis of Beta-thalassemia By Whole-genome Amplification. Prenat Diagn. 2003;23(8):646-51. PubMed PMID: 12913871.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Birth of healthy children after preimplantation diagnosis of beta-thalassemia by whole-genome amplification. AU - Jiao,Zexu, AU - Zhou,Canquan, AU - Li,Jie, AU - Shu,Yimin, AU - Liang,Xiaoyan, AU - Zhang,Mingfang, AU - Zhuang,Guanglun, PY - 2003/8/13/pubmed PY - 2003/12/20/medline PY - 2003/8/13/entrez SP - 646 EP - 51 JF - Prenatal diagnosis JO - Prenat. Diagn. VL - 23 IS - 8 N2 - Preimplantation genetic diagnosis (PGD) offers couples at risk for transmitting an inherited disorder the possibility to avoid the need to terminate affected pregnancies. PGD for monogenic diseases is most commonly accomplished by blastomere biopsy from cleavage-stage embryos, followed by PCR-based DNA analysis. However, the molecular heterogeneity of many monogenic diseases requires a diagnostic strategy capable of detecting a range of mutations and compound genotypes. With the above considerations, we developed an accurate and reliable strategy for analysis of beta-globin gene mutations, applicable for PGD for the wide spectrum of beta-thalassemia major mutations in the Chinese population. The strategy involves primer-extension preamplification (PEP), followed by nested PCR and reverse dot blot (RDB) for mutation detection since it facilitates simultaneous analysis of more than one mutation in a single cell. This report describes the application of the strategy in two clinical IVF/PGD cycles at risk for transmitting beta-thalassemia major, which resulted in the first thalassemia-free children born after PGD in China. SN - 0197-3851 UR - https://www.unboundmedicine.com/medline/citation/12913871/Birth_of_healthy_children_after_preimplantation_diagnosis_of_beta_thalassemia_by_whole_genome_amplification_ L2 - https://doi.org/10.1002/pd.659 DB - PRIME DP - Unbound Medicine ER -