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.
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: Frank B Dean; Seiyu Hosono; Linhua Fang; Xiaohong Wu; A Fawad Faruqi; Patricia Bray-Ward; Zhenyu Sun; Qiuling Zong; Yuefen Du; Jing Du; Mark Driscoll; Wanmin Song; Stephen F Kingsmore; Michael Egholm; Roger S Lasken Journal: Proc Natl Acad Sci U S A Date: 2002-04-16 Impact factor: 11.205
Authors: X M Xu; Y Q Zhou; G X Luo; C Liao; M Zhou; P Y Chen; J P Lu; S Q Jia; G F Xiao; X Shen; J Li; H P Chen; Y Y Xia; Y X Wen; Q H Mo; W D Li; Y Y Li; L W Zhuo; Z Q Wang; Y J Chen; C H Qin; M Zhong Journal: J Clin Pathol Date: 2004-05 Impact factor: 3.411
Authors: Eduardo C Lau; Marleen M Janson; Mark R Roesler; Ellis D Avner; Estil Y Strawn; David P Bick Journal: J Assist Reprod Genet Date: 2010-05-20 Impact factor: 3.412
Authors: Seiyu Hosono; A Fawad Faruqi; Frank B Dean; Yuefen Du; Zhenyu Sun; Xiaohong Wu; Jing Du; Stephen F Kingsmore; Michael Egholm; Roger S Lasken Journal: Genome Res Date: 2003-04-14 Impact factor: 9.043