Short tandem repeats haplotyping of the HLA region in preimplantation HLA matching

Eur J Hum Genet. 2005 Aug;13(8):953-8. doi: 10.1038/sj.ejhg.5201435.

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.

MeSH terms

  • Female
  • HLA Antigens / genetics*
  • Haplotypes
  • Histocompatibility Testing / methods*
  • Humans
  • Pregnancy
  • Preimplantation Diagnosis / methods*
  • Tandem Repeat Sequences

Substances

  • HLA Antigens