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Preimplantation genetic diagnosis for alpha-thalassaemia in China.
J Assist Reprod Genet. 2009 Jul; 26(7):399-403.JA

Abstract

PURPOSE

To report the usage of PGD for alpha-thalassaemia with the - -(SEA) genotype.

METHOD

A PGD protocol using fluorescent gap PCR was performed for 51 cycles on 43 couples with the - -(SEA) genotype. Allele drop-out and amplification failure rates were retrospectively analyzed.

RESULTS

A total of 472 embryos were biopsied. Amplification was achieved in 390 blastomeres, accounting for an amplification rate of 82.6%. In total, 120 wild-type, 94 heterozygotes and 140 homozygous mutant embryos were diagnosed. The successful diagnosis rate was 75.0%. The ADO rate in 49 blastomeres from six donated embryos was 16.4%. One hundred and fifty four embryos were transferred, resulting in 25 clinical pregnancies with an implantation rate of 24.0%.

CONCLUSIONS

Single-round fluorescent gap PCR is a feasible and effective strategy in the PGD for alpha-thalassaemia with the - -(SEA) genotype.

Authors+Show Affiliations

Reproductive Medical Center, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19813097

Citation

Xu, Yan-Wen, et al. "Preimplantation Genetic Diagnosis for Alpha-thalassaemia in China." Journal of Assisted Reproduction and Genetics, vol. 26, no. 7, 2009, pp. 399-403.
Xu YW, Zeng YH, Deng J, et al. Preimplantation genetic diagnosis for alpha-thalassaemia in China. J Assist Reprod Genet. 2009;26(7):399-403.
Xu, Y. W., Zeng, Y. H., Deng, J., Liu, Y., Gao, L., Zhou, C. Q., & Zhuang, G. L. (2009). Preimplantation genetic diagnosis for alpha-thalassaemia in China. Journal of Assisted Reproduction and Genetics, 26(7), 399-403. https://doi.org/10.1007/s10815-009-9336-4
Xu YW, et al. Preimplantation Genetic Diagnosis for Alpha-thalassaemia in China. J Assist Reprod Genet. 2009;26(7):399-403. PubMed PMID: 19813097.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Preimplantation genetic diagnosis for alpha-thalassaemia in China. AU - Xu,Yan-Wen, AU - Zeng,Yan-Hong, AU - Deng,Jie, AU - Liu,Ying, AU - Gao,Ling, AU - Zhou,Can-Quan, AU - Zhuang,Guang-Lun, Y1 - 2009/10/08/ PY - 2009/04/24/received PY - 2009/08/04/accepted PY - 2009/10/9/entrez PY - 2009/10/9/pubmed PY - 2009/12/16/medline SP - 399 EP - 403 JF - Journal of assisted reproduction and genetics JO - J. Assist. Reprod. Genet. VL - 26 IS - 7 N2 - PURPOSE: To report the usage of PGD for alpha-thalassaemia with the - -(SEA) genotype. METHOD: A PGD protocol using fluorescent gap PCR was performed for 51 cycles on 43 couples with the - -(SEA) genotype. Allele drop-out and amplification failure rates were retrospectively analyzed. RESULTS: A total of 472 embryos were biopsied. Amplification was achieved in 390 blastomeres, accounting for an amplification rate of 82.6%. In total, 120 wild-type, 94 heterozygotes and 140 homozygous mutant embryos were diagnosed. The successful diagnosis rate was 75.0%. The ADO rate in 49 blastomeres from six donated embryos was 16.4%. One hundred and fifty four embryos were transferred, resulting in 25 clinical pregnancies with an implantation rate of 24.0%. CONCLUSIONS: Single-round fluorescent gap PCR is a feasible and effective strategy in the PGD for alpha-thalassaemia with the - -(SEA) genotype. SN - 1573-7330 UR - https://www.unboundmedicine.com/medline/citation/19813097/Preimplantation_genetic_diagnosis_for_alpha_thalassaemia_in_China_ L2 - https://doi.org/10.1007/s10815-009-9336-4 DB - PRIME DP - Unbound Medicine ER -