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Preimplantation genetic diagnosis for α-and β-double thalassemia.
J Assist Reprod Genet 2011; 28(10):957-64JA

Abstract

PURPOSE

To evaluate the use of multiple displacement amplification (MDA) for preimplantation genetic diagnosis (PGD) of α- and β-double thalassemia.

METHOD

Whole genome of a single cell was directly amplified using MDA and its products were used as templates in fluorescent gap polymerase chain reaction (PCR) analysis of α-thalassemia and in PCR-reverse dot blot analysis, singleplex fluorescent PCR of β-28 and CD17 mutation and HumTH01 for β-thalassemia.

RESULTS

1) MDA from single cell could produce enough DNA templates for the detection of both α and β-thalassemia; 2) The established MDA-PGD protocol for α- and β-double thalassemia was successfully applied in PGD of six embryos, among which, three were transferred, but no pregnancy ensued.

CONCLUSIONS

The use of MDA as a universal step allows for the simultaneous diagnosis of two or more hereditary defects.

Authors+Show Affiliations

Center for Reproductive Medicine and Department of Gynecology & Obstetrics, First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan Road II, Guangzhou, 510080, People's Republic of China.No affiliation info availableNo 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
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

21667101

Citation

Shen, Xiaoting, et al. "Preimplantation Genetic Diagnosis for Α-and Β-double Thalassemia." Journal of Assisted Reproduction and Genetics, vol. 28, no. 10, 2011, pp. 957-64.
Shen X, Xu Y, Zhong Y, et al. Preimplantation genetic diagnosis for α-and β-double thalassemia. J Assist Reprod Genet. 2011;28(10):957-64.
Shen, X., Xu, Y., Zhong, Y., Zhou, C., Zeng, Y., Zhuang, G., ... Li, T. (2011). Preimplantation genetic diagnosis for α-and β-double thalassemia. Journal of Assisted Reproduction and Genetics, 28(10), pp. 957-64. doi:10.1007/s10815-011-9598-5.
Shen X, et al. Preimplantation Genetic Diagnosis for Α-and Β-double Thalassemia. J Assist Reprod Genet. 2011;28(10):957-64. PubMed PMID: 21667101.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Preimplantation genetic diagnosis for α-and β-double thalassemia. AU - Shen,Xiaoting, AU - Xu,Yanwen, AU - Zhong,Yiping, AU - Zhou,Canquan, AU - Zeng,Yanhong, AU - Zhuang,Guanglun, AU - Ding,Chenhui, AU - Li,Tao, Y1 - 2011/06/11/ PY - 2011/04/11/received PY - 2011/05/31/accepted PY - 2011/6/14/entrez PY - 2011/6/15/pubmed PY - 2012/6/22/medline SP - 957 EP - 64 JF - Journal of assisted reproduction and genetics JO - J. Assist. Reprod. Genet. VL - 28 IS - 10 N2 - PURPOSE: To evaluate the use of multiple displacement amplification (MDA) for preimplantation genetic diagnosis (PGD) of α- and β-double thalassemia. METHOD: Whole genome of a single cell was directly amplified using MDA and its products were used as templates in fluorescent gap polymerase chain reaction (PCR) analysis of α-thalassemia and in PCR-reverse dot blot analysis, singleplex fluorescent PCR of β-28 and CD17 mutation and HumTH01 for β-thalassemia. RESULTS: 1) MDA from single cell could produce enough DNA templates for the detection of both α and β-thalassemia; 2) The established MDA-PGD protocol for α- and β-double thalassemia was successfully applied in PGD of six embryos, among which, three were transferred, but no pregnancy ensued. CONCLUSIONS: The use of MDA as a universal step allows for the simultaneous diagnosis of two or more hereditary defects. SN - 1573-7330 UR - https://www.unboundmedicine.com/medline/citation/21667101/Preimplantation_genetic_diagnosis_for_α_and_β_double_thalassemia_ L2 - https://doi.org/10.1007/s10815-011-9598-5 DB - PRIME DP - Unbound Medicine ER -