caa a22 4500 445817313 CHVBK 20180317145232.0 cr unu---uuuuu 170323e20110901xx s 000 0 eng 10.1007/s10815-011-9598-5 doi (NATIONALLICENCE)springer-10.1007/s10815-011-9598-5 Preimplantation genetic diagnosis for α-and β-double thalassemia [Elektronische Daten] [Xiaoting Shen, Yanwen Xu, Yiping Zhong, Canquan Zhou, Yanhong Zeng, Guanglun Zhuang, Chenhui Ding, Tao Li] 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. Springer Science+Business Media, LLC, 2011 Preimplantation genetic diagnosis nationallicence α- thalassemia nationallicence β-thalassemia nationallicence Multiple displacement amplification nationallicence Shen Xiaoting Center for Reproductive Medicine and Department of Gynecology & Obstetrics, First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan Road II, 510080, Guangzhou, People's Republic of China aut Xu Yanwen Center for Reproductive Medicine and Department of Gynecology & Obstetrics, First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan Road II, 510080, Guangzhou, People's Republic of China aut Zhong Yiping Center for Reproductive Medicine and Department of Gynecology & Obstetrics, First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan Road II, 510080, Guangzhou, People's Republic of China aut Zhou Canquan Center for Reproductive Medicine and Department of Gynecology & Obstetrics, First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan Road II, 510080, Guangzhou, People's Republic of China aut Zeng Yanhong Center for Reproductive Medicine and Department of Gynecology & Obstetrics, First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan Road II, 510080, Guangzhou, People's Republic of China aut Zhuang Guanglun Center for Reproductive Medicine and Department of Gynecology & Obstetrics, First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan Road II, 510080, Guangzhou, People's Republic of China aut Ding Chenhui Center for Reproductive Medicine and Department of Gynecology & Obstetrics, First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan Road II, 510080, Guangzhou, People's Republic of China aut Li Tao Center for Reproductive Medicine and Department of Gynecology & Obstetrics, First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan Road II, 510080, Guangzhou, People's Republic of China aut Journal of Assisted Reproduction and Genetics Springer US; http://www.springer-ny.com 28/10(2011-09-01), 957-964 1058-0468 28:10<957 2011 28 10815 https://doi.org/10.1007/s10815-011-9598-5 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10815-011-9598-5 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Shen Xiaoting Center for Reproductive Medicine and Department of Gynecology & Obstetrics, First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan Road II, 510080, Guangzhou, People's Republic of China aut NATIONALLICENCE 700 1- Xu Yanwen Center for Reproductive Medicine and Department of Gynecology & Obstetrics, First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan Road II, 510080, Guangzhou, People's Republic of China aut NATIONALLICENCE 700 1- Zhong Yiping Center for Reproductive Medicine and Department of Gynecology & Obstetrics, First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan Road II, 510080, Guangzhou, People's Republic of China aut NATIONALLICENCE 700 1- Zhou Canquan Center for Reproductive Medicine and Department of Gynecology & Obstetrics, First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan Road II, 510080, Guangzhou, People's Republic of China aut NATIONALLICENCE 700 1- Zeng Yanhong Center for Reproductive Medicine and Department of Gynecology & Obstetrics, First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan Road II, 510080, Guangzhou, People's Republic of China aut NATIONALLICENCE 700 1- Zhuang Guanglun Center for Reproductive Medicine and Department of Gynecology & Obstetrics, First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan Road II, 510080, Guangzhou, People's Republic of China aut NATIONALLICENCE 700 1- Ding Chenhui Center for Reproductive Medicine and Department of Gynecology & Obstetrics, First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan Road II, 510080, Guangzhou, People's Republic of China aut NATIONALLICENCE 700 1- Li Tao Center for Reproductive Medicine and Department of Gynecology & Obstetrics, First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan Road II, 510080, Guangzhou, People's Republic of China aut NATIONALLICENCE 773 0- Journal of Assisted Reproduction and Genetics Springer US; http://www.springer-ny.com 28/10(2011-09-01), 957-964 1058-0468 28:10<957 2011 28 10815 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer