Deletion of the HLA-B Gene in One of the Inherited Haplotypes in a Northern European Family

IF 5.9 4区医学 Q2 CELL BIOLOGY

HLA Pub Date : 2025-05-09 DOI:10.1111/tan.70234

Frank Grünebach, Tobias B. Haack, Michaela Döring, Britta Merz, Antje Petz, Christine Bauer, Martina Storz, Peter Lang, Reinhild Klein

引用次数: 0

Abstract

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 sequencing of the patient and her father confirmed an approximately 85 kb deletion at 6p21.33 from the 5′ end of the HLA-B to the 3′ end of the HLA-C gene extending telomeric to HLA-C.

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一个北欧家庭遗传单倍型中HLA-B基因的缺失

一名17岁女性移植患者的下一代靶向测序HLA分型显示HLA- b等位基因纯合子。对家族成员HLA单倍型的分离分析，只能得出父亲和祖父遗传的单倍型中b等位基因缺失的结论，导致假纯合基因分型。随后对患者及其父亲的全基因组测序证实，从HLA-B的5 ‘端到HLA-C基因的3 ’端，在6p21.33处有大约85 kb的缺失，端粒延伸到HLA-C。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

HLA Immunology and Microbiology-Immunology

CiteScore

3.00

自引率

28.80%

发文量

368

期刊介绍： HLA, the journal, publishes articles on various aspects of immunogenetics. These include the immunogenetics of cell surface antigens, the ontogeny and phylogeny of the immune system, the immunogenetics of cell interactions, the functional aspects of cell surface molecules and their natural ligands, and the role of tissue antigens in immune reactions. Additionally, the journal covers experimental and clinical transplantation, the relationships between normal tissue antigens and tumor-associated antigens, the genetic control of immune response and disease susceptibility, and the biochemistry and molecular biology of alloantigens and leukocyte differentiation. Manuscripts on molecules expressed on lymphoid cells, myeloid cells, platelets, and non-lineage-restricted antigens are welcomed. Lastly, the journal focuses on the immunogenetics of histocompatibility antigens in both humans and experimental animals, including their tissue distribution, regulation, and expression in normal and malignant cells, as well as the use of antigens as markers for disease.