PMID- 23047205 OWN - NLM STAT- MEDLINE DCOM- 20130318 LR - 20121010 IS - 1658-3175 (Electronic) IS - 0379-5284 (Linking) VI - 33 IP - 10 DP - 2012 Oct TI - Successful pregnancies after combined human leukocyte antigen direct genotyping and preimplantation genetic diagnosis utilizing multiple displacement amplification. PG - 1059-64 AB - 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. CONCLUSION: This report demonstrates the first clinical application of PGD coupled with direct HLA loci-typing of DNA amplified by MDA from a single cell. FAU - Hellani, Ali M AU - Hellani AM AD - Genetic Diagnosis Laboratory, Saad Specialist Hospital, Al-Khobar, Kingdom of Saudi Arabia. FAU - Akoum, Siham M AU - Akoum SM FAU - Fadel, Elias S AU - Fadel ES FAU - Yousef, Hisham M AU - Yousef HM FAU - Abu-Amero, Khaled K AU - Abu-Amero KK LA - eng PT - Journal Article PL - Saudi Arabia TA - Saudi Med J JT - Saudi medical journal JID - 7909441 RN - 0 (HLA Antigens) SB - IM MH - Female MH - Genotype MH - HLA Antigens/*genetics MH - Humans MH - Pregnancy MH - *Preimplantation Diagnosis EDAT- 2012/10/11 06:00 MHDA- 2013/03/19 06:00 CRDT- 2012/10/11 06:00 PHST- 2012/10/11 06:00 [entrez] PHST- 2012/10/11 06:00 [pubmed] PHST- 2013/03/19 06:00 [medline] AID - 0' [pii] PST - ppublish SO - Saudi Med J. 2012 Oct;33(10):1059-64.