Article
Deletion of the HLA-B Gene in One of the Inherited Haplotypes in a Northern European Family.
HLA - 1 May 2025
Grünebach Frank, Haack Tobias B, Döring Michaela, Merz Britta, Petz Antje, Bauer Christine, Storz Martina, Lang Peter, Klein Reinhild
Abstract excerpt
Targeted next generation sequencing-based HLA typing of a 17-year-old female transplant patient showed homozygosity for the HLA-B allele. The segregation analysis of HLA haplotypes of family members only allowed the conclusion that the B-allele was deleted in the haplotype inherited from the father and accordingly paternal grandfather, resulting in false homozygous genotyping. The subsequent whole-genome...
Read the complete abstract on PubMedTopics
- Adolescent
- Female
- Humans
- Male
- Alleles
- Haplotypes
- High-Throughput Nucleotide Sequencing
