title: Successful pregnancies after combined human leukocyte antigen direct genotyping and preimplantation genetic diagnosis utilizing multiple displacement amplification.
abstract: OBJECTIVE
  To devise a new and simple technique to help select normal embryos that are human leukocyte antigen (HLA) matched to their affected siblings for diseases, such as beta-thalassemia or sickle cell anemia, which are common in this part of the world.
  
  
  METHODS
  This study was conducted between March 2008 and April 2011 at the preimplantation Genetic Diagnosis Laboratory, Saad Specialist Hospital, Al-Khobar, Kingdom of Saudi Arabia. Embryos were obtained after 7 in vitro fertilization preimplantation genetic diagnosis (IVF-PGD) cycles. Single cells were biopsied, and extracted DNA was amplified by the multiple displacement amplification (MDA) technique. Amplified DNA was then tested for mutations in the beta-globin gene, and directly HLA typed using a sequence specific primer technique.
  
  
  RESULTS
  We report 7 families that underwent 7 PGD cycles with HLA typing and direct HLA loci-typing using an HLA conventional commercial kit. Two patients had PGD and HLA typing for class I and II, while the other 5 had class II. The PGD cycles resulted in 3 pregnancies out of 5 patients who had HLA matched and normal embryos. One family had a successful hematopoietic stem cell transplant.
  
  
  CONCLUSIONS
  This report demonstrates the first clinical application of PGD coupled with direct HLA loci-typing of DNA amplified by MDA from a single cell.
authors.affiliation: Genetic Diagnosis Laboratory, Saad Specialist Hospital, Al-Khobar, Kingdom of Saudi Arabia.
authors.forename: Ali M
authors.initials: AM
authors.lastname: Hellani
authors.forename: Siham M
authors.initials: SM
authors.lastname: Akoum
authors.forename: Elias S
authors.initials: ES
authors.lastname: Fadel
authors.forename: Hisham M
authors.initials: HM
authors.lastname: Yousef
authors.forename: Khaled K
authors.initials: KK
authors.lastname: Abu-Amero
mesh_terms: D005260:Female; D005838:Genotype; D006680:HLA Antigens / Q000235:genetics*; D006801:Humans; D011247:Pregnancy; D019836:Preimplantation Diagnosis
chemical_list: D006680:HLA Antigens