title: Preimplantation genetic diagnosis for α-and β-double thalassemia.
abstract: OBJECTIVE
  To evaluate the use of multiple displacement amplification (MDA) for preimplantation genetic diagnosis (PGD) of α- and β-double thalassemia.
  
  
  METHODS
  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.affiliation: 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.
authors.forename: Xiaoting
authors.initials: X
authors.lastname: Shen
authors.forename: Yanwen
authors.initials: Y
authors.lastname: Xu
authors.forename: Yiping
authors.initials: Y
authors.lastname: Zhong
authors.forename: Canquan
authors.initials: C
authors.lastname: Zhou
authors.forename: Yanhong
authors.initials: Y
authors.lastname: Zeng
authors.forename: Guanglun
authors.initials: G
authors.lastname: Zhuang
authors.forename: Chenhui
authors.initials: C
authors.lastname: Ding
authors.forename: Tao
authors.initials: T
authors.lastname: Li
mesh_terms: D000328:Adult; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D021141:Nucleic Acid Amplification Techniques; D010375:Pedigree; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000235:genetics; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics