ABSTRACT
Genomic sequence of HLA-DPA1*01:03:01:73, -DPA1*01:03:01:80, DPA1*01:03:01:82, -DPA1*01:155:01:02, -DPA1*02:02:02:16 alleles in Spanish individuals.
Subject(s)
Alleles , HLA-DP alpha-Chains , Humans , HLA-DP alpha-Chains/genetics , Exons , Spain , Histocompatibility Testing , Sequence Analysis, DNA , Base Sequence , Sequence AlignmentABSTRACT
Characterisation of HLA-DQA1*01:02:01:30, HLA-DQA1*01:03:01:14, HLA-DQA1*03:03:01:20, HLA-DQA1*04:01:01:13, HLA-DQA1*05:05:01:40 alleles in Spanish individuals.
Subject(s)
Alleles , HLA-DQ alpha-Chains , Humans , HLA-DQ alpha-Chains/genetics , Histocompatibility Testing , Spain , Sequence Analysis, DNA/methods , Exons , Base SequenceABSTRACT
Characterization of HLA-DQB1*02:02:01:18, -DQB1*02:02:01:19, -DQB1*03:02:01:20 and -DQB1*05:03:01:10 alleles in Spanish individuals.
Subject(s)
High-Throughput Nucleotide Sequencing , Humans , Alleles , HLA-DQ beta-Chains/genetics , MutationABSTRACT
Characterization of HLA-B*40:01:02:61, -B*48:01:01:14, and -C*01:02:01:69 alleles in Spanish individuals.
Subject(s)
Genes, MHC Class I , HLA-B Antigens , Humans , Alleles , HLA-B Antigens/genetics , Genomics , High-Throughput Nucleotide SequencingABSTRACT
Characterization of HLA-DQB1*06:472, -DQB1*06:02:01:34 and -DQB1*06:04:01:06 alleles in Spanish individuals.
Subject(s)
High-Throughput Nucleotide Sequencing , Humans , Alleles , HLA-DQ beta-Chains/geneticsABSTRACT
Three novel HLA Class I alleles, -A*02:1092, -A*29:01:01:11 and -B*44:03:01:58, characterized in Spanish individuals.
Subject(s)
HLA-A Antigens , High-Throughput Nucleotide Sequencing , Humans , Alleles , HLA-A Antigens/genetics , HLA-B Antigens/geneticsABSTRACT
Four novel HLA Class II alleles, HLA-DPA1*01:03:01:68, -DPA1*01:03:01:71, -DQA1*02:01:01:06, and -DQB1*06:03:01:19, characterized in Spanish individuals.
Subject(s)
HLA-DP alpha-Chains , Humans , Alleles , HLA-DP alpha-Chains/genetics , HLA-DQ beta-Chains/genetics , Haplotypes , HLA-DQ alpha-Chains/genetics , Gene FrequencyABSTRACT
Four novel HLA-DQA1 alleles, -DQA1*01:01:02:04, -DQA1*01:04:01:05, -DQA1*03:03:01:19 and -DQA1*05:01:01:08, characterized in Spanish individuals.
Subject(s)
Alleles , Humans , HLA-DQ alpha-Chains/geneticsABSTRACT
Three novel HLA Class I alleles, -B*15:640, -B*18:01:01:71 and -C*05:275, characterized in Spanish individuals.
Subject(s)
HLA-B Antigens , High-Throughput Nucleotide Sequencing , Humans , Alleles , HLA-B Antigens/genetics , Genes, MHC Class I , Histocompatibility TestingABSTRACT
Four novel HLA-DPA1 alleles, -DPA1*01:03:01:59, -DPA1*01:03:01:60, -DPA1*02:01:01:30, and -DPA1*02:01:01:31, characterized in Spanish individuals.
Subject(s)
HLA-DP alpha-Chains , High-Throughput Nucleotide Sequencing , Alleles , HLA-DP alpha-Chains/genetics , Humans , Introns/geneticsABSTRACT
Identification of the novel DQA1*03:31, DQB1*05:01:01:19, DPA1*02:01:01:20 and DPA1*02:01:01:28 alleles by NGS.
Subject(s)
Histocompatibility Antigens Class II , Alleles , Gene Frequency , HLA-DQ beta-Chains/genetics , Haplotypes , Histocompatibility Antigens Class II/genetics , HumansABSTRACT
The characterization of the expression profile of HLA questionable alleles (Q) is clinically relevant in allogeneic hematopoietic stem cell transplantation (HSTC) because an aberrant expression of these alleles could lead to transplantation-related complications. HLA-DQB1*03:01:01:21Q shows a substitution at the donor splice site of intron 3 that potentially could affect the expression of this allele. In order to determine their expression profile at RNA and protein level, we analyzed the presence of the HLA-DQ7 molecule by complement-dependent cytotoxicity test (CDC) and flow cytometry, and their RNA processing by cDNA analyses and sequencing by Sanger methods. Our results reveal that HLA-DQ7 is not detectable by serological methods, this is confirmed by cDNA methods demonstrating the absence of specific HLA-DQB1*03:01:01:21Q mRNA, probably due to an intron 3 retention that creates a premature TGA stop codon, leading to mRNA degradation via nonsense-mediated decay (NMD). These findings demonstrate that the HLA-DQB1*03:01:01:21Q allele is nonexpressed, thus it has been renamed as DQB1*03:01:01:21N.
Subject(s)
RNA , Alleles , DNA, Complementary/genetics , HLA-DQ beta-Chains/genetics , HumansABSTRACT
Four novel HLA-DQB1 alleles, -DQB1*02:02:01:08, -DQB1*02:01:01:11, -DQB1*03:01:01:30 and -DQB1*03:01:01:36, characterized in Spanish individuals.
Subject(s)
High-Throughput Nucleotide Sequencing , Alleles , HLA-DQ beta-Chains/genetics , Humans , IntronsABSTRACT
Four novel HLA alleles, HLA-B*40:02:01:26, HLA-DQB1*03:01:01:29, HLA-DQB1*04:02:01:12 and HLA-DPB1*1195:01, detected in Spanish individuals.
Subject(s)
HLA-B Antigens , Alleles , Gene Frequency , HLA-B Antigens/genetics , HLA-DP beta-Chains , HLA-DQ beta-Chains/genetics , HLA-DRB1 Chains/genetics , HumansABSTRACT
A single nucleotide substitution in exon 3 of HLA-DQB1*06:03:01 results in a new allele, HLA-DQB1*06:03:27.
Subject(s)
Bone Marrow , Alleles , HLA-DQ beta-Chains/genetics , Histocompatibility Testing , HumansABSTRACT
Four novel HLA class I alleles, -A*01:01:01:76, -B*15:03:12, -B*49:01:01:14, and -C*04:01:01:115, detected in Spanish individuals.
Subject(s)
HLA-A Antigens , High-Throughput Nucleotide Sequencing , Alleles , HLA-A Antigens/genetics , HumansABSTRACT
Three novel HLA class I alleles, HLA-A*03:01:93, -C*07:18:08, and -C*03:03:01:41, detected in Spanish individuals.
Subject(s)
HLA-A Antigens , Tissue Donors , Alleles , HLA-A Antigens/genetics , High-Throughput Nucleotide Sequencing , HumansABSTRACT
Three new HLA-B*08:254, -DQB1*02:172, and -DPB1*1101:01 alleles detected in Spanish individuals.
