Identification of the novel HLA-DQA1*01:04:07 allele with a synonymous substitution and an intronic insertion

HLA. 2023 May;101(5):559-561. doi: 10.1111/tan.14913. Epub 2022 Dec 27.

Authors

Francisco Javier Gil Etayo^{1

2}, Jairo Eduardo Niño Ramírez^{1

2

3}, Pilar Terradillos Sánchez¹, Ramón García Sanz^{1

2

3

4

5}, Amalia Tejeda Velarde^{1

2}

Affiliations

¹ Laboratorio de HLA-Biología Molecular, Servicio de Hematología, Hospital Universitario de Salamanca, Salamanca, Spain.
² Instituto de Investigación Biomédica de Salamanca (IBSAL), Salamanca, Spain.
³ Universidad de Salamanca (USAL), Salamanca, Spain.
⁴ Centro de Investigación del Cáncer (CIC), Salamanca, Spain.
⁵ Centro de Investigación Biomédica en Red Cáncer (CIBERONC), Madrid, Spain.

PMID: 36479838
DOI: 10.1111/tan.14913

Abstract

A synonymous substitution in exon 2 and intronic insertion results in the novel HLA-DQA1*01:04:07 allele.

Keywords: HLA-DQA1*01:04:07; HLA-class II; next generation sequencing; synonymous polymorphism.

© 2022 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

MeSH terms

Alleles
Exons
HLA-DQ Antigens* / genetics
HLA-DQ alpha-Chains / genetics
Humans

Substances

HLA-DQA1 antigen
HLA-DQ Antigens
HLA-DQ alpha-Chains