title: Short tandem repeats haplotyping of the HLA region in preimplantation HLA matching.
abstract: Recently, preimplantation genetic diagnosis (PGD) has been considered for several indications beyond its original purpose, not only to test embryos for genetic disease but also to select embryos for a nondisease trait, such as specific human leukocyte antigen (HLA) genotypes, related to immune compatibility with an existing affected child in need of a haematopoetic stem cell (HSC) transplant. We have optimized an indirect single-cell HLA typing protocol based on a multiplex fluorescent polymerase chain reaction (PCR) of short tandem repeat (STR) markers scattered throughout the HLA complex. The assay was clinically applied in 60 cycles from 45 couples. A conclusive HLA-matching diagnosis was achieved in 483/530 (91.1%) of the embryos tested. In total, 74 (15.3%) embryos revealed an HLA match with the affected siblings, 55 (11.4%) of which resulted unaffected and 46 (9.5%) have been transferred to the patients. Nine pregnancies were achieved, five healthy HLA-matched children have already been delivered and cord blood HSCs, were transplanted to three affected siblings, resulting in a successful haematopoietic reconstruction.
authors.affiliation: EmbryoGen - Center for Preimplantation Genetic Diagnosis, Rome, Italy. fiorentino@embryon.it
authors.forename: Francesco
authors.initials: F
authors.lastname: Fiorentino
authors.forename: Semra
authors.initials: S
authors.lastname: Kahraman
authors.forename: Hüseyin
authors.initials: H
authors.lastname: Karadayi
authors.forename: Anil
authors.initials: A
authors.lastname: Biricik
authors.forename: Semra
authors.initials: S
authors.lastname: Sertyel
authors.forename: Güvenc
authors.initials: G
authors.lastname: Karlikaya
authors.forename: Yaman
authors.initials: Y
authors.lastname: Saglam
authors.forename: Daniele
authors.initials: D
authors.lastname: Podini
authors.forename: Andrea
authors.initials: A
authors.lastname: Nuccitelli
authors.forename: Marina
authors.initials: M
authors.lastname: Baldi
mesh_terms: D005260:Female; D006680:HLA Antigens / Q000235:genetics*; D006239:Haplotypes; D006650:Histocompatibility Testing / Q000379:methods*; D006801:Humans; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D020080:Tandem Repeat Sequences
chemical_list: D006680:HLA Antigens