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1.
Int J Immunogenet ; 41(1): 92-4, 2014 Feb.
Article in English | MEDLINE | ID: mdl-23639078

ABSTRACT

In this report, we describe the identification and sequencing of a novel HLA-DPB1 allele, found in an Italian haematological patient. This allele is identical to DPB1*17:01 except for a single nucleotide substitution (GAC→GAG) at position 57, which changes the encoded amino acid from Asp to Glu.


Subject(s)
Alleles , HLA-DP beta-Chains/genetics , White People/genetics , Base Sequence , HLA-DP beta-Chains/chemistry , Humans , Italy , Molecular Sequence Data , Sequence Alignment
2.
Tissue Antigens ; 82(1): 73-4, 2013 Jul.
Article in English | MEDLINE | ID: mdl-23557517

ABSTRACT

The novel allele human leukocyte antigen(HLA)-DQB1*06:04:04 differs from HLA-DQB1*06:04:01 by a silent nucleotide substitution at codon 75 (TTG → CTG).


Subject(s)
Alleles , HLA-DQ beta-Chains/genetics , Base Sequence , Exons/genetics , Humans , Molecular Sequence Data , Sequence Alignment
3.
Int J Immunogenet ; 37(5): 399-400, 2010 Oct.
Article in English | MEDLINE | ID: mdl-21182748

ABSTRACT

We describe a novel HLA-B*51 allele detected by DNA direct sequencing. The sequence of this allele has been officially named B*51:78 as a confirmatory sequence. This new allele nucleotide sequence differs from HLA-B*51:01:01 for two point mutations in exon 2 where codons 79-80 change from CGG-ATC to CGC-ACC (p.Ile80Thr).


Subject(s)
Alleles , HLA-B Antigens/genetics , Hematopoietic Stem Cells , Tissue Donors , Base Sequence , Exons , Humans , Molecular Sequence Data , Mutation
4.
Int J Immunogenet ; 37(4): 299-300, 2010 Aug.
Article in English | MEDLINE | ID: mdl-20518835

ABSTRACT

Summary Here, we describe the characterisation of a new allelic variant of HLA-B*57. The novel allele, HLA-B*5728N, was identified with sequence-based typing in a Caucasoid family. HLA-B*5728N, differs from HLA-B*5701 because of a nucleotide substitution at position 420 (C->G) resulting in a coding change from Tyrosine to a stop codon.


Subject(s)
Genes, MHC Class I , HLA-B Antigens/genetics , Histocompatibility Testing/methods , Alleles , Amino Acid Substitution , Base Sequence , Codon, Terminator , Exons/genetics , Female , Haplotypes/genetics , Humans , Immunoblotting , Male , Molecular Sequence Data , Polymerase Chain Reaction , Sequence Alignment , Sequence Analysis, DNA , Sequence Homology, Nucleic Acid , Serologic Tests , White People/genetics
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