PMID- 15886713
OWN - NLM
STAT- MEDLINE
DCOM- 20051207
LR  - 20050725
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 13
IP  - 8
DP  - 2005 Aug
TI  - Short tandem repeats haplotyping of the HLA region in preimplantation HLA 
      matching.
PG  - 953-8
AB  - 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.
FAU - Fiorentino, Francesco
AU  - Fiorentino F
AD  - EmbryoGen - Center for Preimplantation Genetic Diagnosis, Rome, Italy. 
      fiorentino@embryon.it
FAU - Kahraman, Semra
AU  - Kahraman S
FAU - Karadayi, Huseyin
AU  - Karadayi H
FAU - Biricik, Anil
AU  - Biricik A
FAU - Sertyel, Semra
AU  - Sertyel S
FAU - Karlikaya, Guvenc
AU  - Karlikaya G
FAU - Saglam, Yaman
AU  - Saglam Y
FAU - Podini, Daniele
AU  - Podini D
FAU - Nuccitelli, Andrea
AU  - Nuccitelli A
FAU - Baldi, Marina
AU  - Baldi M
LA  - eng
PT  - Journal Article
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
RN  - 0 (HLA Antigens)
SB  - IM
MH  - Female
MH  - HLA Antigens/*genetics
MH  - Haplotypes
MH  - Histocompatibility Testing/*methods
MH  - Humans
MH  - Pregnancy
MH  - Preimplantation Diagnosis/*methods
MH  - Tandem Repeat Sequences
EDAT- 2005/05/12 09:00
MHDA- 2005/12/13 09:00
CRDT- 2005/05/12 09:00
PHST- 2005/05/12 09:00 [pubmed]
PHST- 2005/12/13 09:00 [medline]
PHST- 2005/05/12 09:00 [entrez]
AID - 5201435 [pii]
AID - 10.1038/sj.ejhg.5201435 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 2005 Aug;13(8):953-8. doi: 10.1038/sj.ejhg.5201435.