A nonsense mutation in Exon 3 results in the HLA-B null allele B*5127N

Autor: J.Y. Hou, Jane Kearns, S. Bassinger, Thomas M. Williams, S. Birkos, Jin Wu, E. Luning Prak, Malek Kamoun
Rok vydání: 2002
Předmět:
Zdroj: Tissue Antigens. 60:262-265
ISSN: 0001-2815
Popis: A new HLA-B null allele has been identified within the B*51 group by combined serological and molecular typing of an Italian Caucasoid family. Serological data indicated that the proband typed homozygous for A2 and B60. Confirmatory typing using sequence specific oligonucleotide hybridization (SSPOH) detected a second B allele within the B*51 group. Allele specific typing (SSP) for B*51 subtypes, including the known B*5111N allele, was performed, and typing results were consistent with B*5101, suggesting the presence of a new null variant. Cloning and sequencing of this allele identified a B*5101 variant with a nonsense mutation in exon 3. This new null allele has been designated B*5127N. The combined use of serologic and DNA-based typing methods facilitates the identification of null and low-expression alleles. An overview of null alleles of class I HLA is presented.
Databáze: OpenAIRE