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Successful preimplantation genetic diagnosis for alpha- and beta-thalassemia in China.
Prenat Diagn 2006; 26(11):1021-8PD

Abstract

METHODS & RESULTS

In southern China, the average carrier rates of alpha-thalassemia and beta-thalassemia in the population are as high as 10.3% and 2.8%, respectively. Because of the high rates, they are known as 'social diseases' in some regions. In this study, the fluorescent gap PCR, which can detect the alpha-thalassemia Southeast Asia deletion (SEA deletion), was applied in four clinical applications of preimplantation genetic diagnosis (PGD) on four couples, among whom both partners were alpha-thalassemia carriers. Two patients became pregnant and two healthy babies were born, which confirmed the PGD results. The single cell multiplex nested PCR followed by reverse dot blot (RDB), which can simultaneously detect the 16 beta-thalassemia mutations in the Chinese population, was applied in four clinical PGD cycles on four couples among whom both partners were beta-thalassemia carriers. One pregnancy was achieved and it resulted in a live healthy birth, which confirmed the results of PGD. The amplification efficiencies of the two protocols described above were 89.5% and 93.9%, respectively. The allele drop-out (ADO) rates of these two protocols were 5.9% and 10.9%, respectively.

CONCLUSION

These studies represent the successful applications of PGD protocols that can detect more than 95% of alpha- and beta -thalassemia mutations in the Chinese population.

Authors+Show Affiliations

Reproductive Medical Center, 1st Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

16986175

Citation

Deng, Jie, et al. "Successful Preimplantation Genetic Diagnosis for Alpha- and Beta-thalassemia in China." Prenatal Diagnosis, vol. 26, no. 11, 2006, pp. 1021-8.
Deng J, Peng WL, Li J, et al. Successful preimplantation genetic diagnosis for alpha- and beta-thalassemia in China. Prenat Diagn. 2006;26(11):1021-8.
Deng, J., Peng, W. L., Li, J., Fang, C., Liang, X. Y., Zeng, Y. H., ... Zhuang, G. L. (2006). Successful preimplantation genetic diagnosis for alpha- and beta-thalassemia in China. Prenatal Diagnosis, 26(11), pp. 1021-8.
Deng J, et al. Successful Preimplantation Genetic Diagnosis for Alpha- and Beta-thalassemia in China. Prenat Diagn. 2006;26(11):1021-8. PubMed PMID: 16986175.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Successful preimplantation genetic diagnosis for alpha- and beta-thalassemia in China. AU - Deng,Jie, AU - Peng,Wen-Lin, AU - Li,Jie, AU - Fang,Cong, AU - Liang,Xiao-Yan, AU - Zeng,Yan-Hong, AU - Sun,Hong-Yu, AU - Zhou,Can-Quan, AU - Zhuang,Guang-Lun, PY - 2006/9/21/pubmed PY - 2007/2/28/medline PY - 2006/9/21/entrez SP - 1021 EP - 8 JF - Prenatal diagnosis JO - Prenat. Diagn. VL - 26 IS - 11 N2 - METHODS & RESULTS: In southern China, the average carrier rates of alpha-thalassemia and beta-thalassemia in the population are as high as 10.3% and 2.8%, respectively. Because of the high rates, they are known as 'social diseases' in some regions. In this study, the fluorescent gap PCR, which can detect the alpha-thalassemia Southeast Asia deletion (SEA deletion), was applied in four clinical applications of preimplantation genetic diagnosis (PGD) on four couples, among whom both partners were alpha-thalassemia carriers. Two patients became pregnant and two healthy babies were born, which confirmed the PGD results. The single cell multiplex nested PCR followed by reverse dot blot (RDB), which can simultaneously detect the 16 beta-thalassemia mutations in the Chinese population, was applied in four clinical PGD cycles on four couples among whom both partners were beta-thalassemia carriers. One pregnancy was achieved and it resulted in a live healthy birth, which confirmed the results of PGD. The amplification efficiencies of the two protocols described above were 89.5% and 93.9%, respectively. The allele drop-out (ADO) rates of these two protocols were 5.9% and 10.9%, respectively. CONCLUSION: These studies represent the successful applications of PGD protocols that can detect more than 95% of alpha- and beta -thalassemia mutations in the Chinese population. SN - 0197-3851 UR - https://www.unboundmedicine.com/medline/citation/16986175/Successful_preimplantation_genetic_diagnosis_for_alpha__and_beta_thalassemia_in_China_ L2 - https://doi.org/10.1002/pd.1549 DB - PRIME DP - Unbound Medicine ER -