ABSTRACT
The HLA-DQB1*03:01:01:64 allele differs from HLA-DQB1*03:01:01:03 by a single nucleotide substitution in intron 2.
Subject(s)
Alleles , HLA-DQ beta-Chains , High-Throughput Nucleotide Sequencing , Introns , Humans , HLA-DQ beta-Chains/genetics , Histocompatibility Testing/methods , Exons , Polymorphism, Single Nucleotide , Sequence Analysis, DNA/methods , Base SequenceABSTRACT
The HLA-DQB1*06:02:01:40 allele differs from HLA-DQB1*06:02:01:01 by a single nucleotide substitution in intron 2.
Subject(s)
Alleles , HLA-DQ beta-Chains , High-Throughput Nucleotide Sequencing , Histocompatibility Testing , Introns , Humans , HLA-DQ beta-Chains/genetics , Histocompatibility Testing/methods , Exons , Polymorphism, Single Nucleotide , Base Sequence , Sequence Analysis, DNA/methodsABSTRACT
Characterisation of the novel HLA-C*07:01:01:141 allele in a 23-year-old Greek bone marrow donor.
Subject(s)
Alleles , Exons , HLA-C Antigens , High-Throughput Nucleotide Sequencing , Humans , HLA-C Antigens/genetics , High-Throughput Nucleotide Sequencing/methods , Young Adult , Histocompatibility Testing/methods , Tissue Donors , Base Sequence , Polymorphism, Single Nucleotide , Sequence Alignment , Sequence Analysis, DNA/methodsABSTRACT
HLA-C*04:01:01:182 differs from the HLA-C*04:01:01:06 allele by one nucleotide substitution in the 5'UTR.
Subject(s)
Alleles , HLA-C Antigens , High-Throughput Nucleotide Sequencing , Histocompatibility Testing , Tissue Donors , Humans , HLA-C Antigens/genetics , High-Throughput Nucleotide Sequencing/methods , Histocompatibility Testing/methods , 5' Untranslated Regions , Exons , Base Sequence , Sequence Analysis, DNA/methods , Bone Marrow , Polymorphism, Single Nucleotide , Bone Marrow TransplantationABSTRACT
Characterisation of the novel HLA-C*14:02:01:31 allele in a 21-year-old Greek bone marrow donor.
Subject(s)
Alleles , Exons , HLA-C Antigens , High-Throughput Nucleotide Sequencing , Histocompatibility Testing , Tissue Donors , Humans , HLA-C Antigens/genetics , Young Adult , Bone Marrow Transplantation , Bone Marrow , Base Sequence , Polymorphism, Single Nucleotide , CodonABSTRACT
The newly discovered HLA-C*04:01:01:186 allele differs from HLA-C*04:01:01:01 by a single nucleotide substitution in intron 3.
Subject(s)
Alleles , HLA-C Antigens , High-Throughput Nucleotide Sequencing , Histocompatibility Testing , Introns , Humans , HLA-C Antigens/genetics , High-Throughput Nucleotide Sequencing/methods , Histocompatibility Testing/methods , Greece , Polymorphism, Single Nucleotide , Exons , Base Sequence , Sequence Analysis, DNA/methodsABSTRACT
HLA-B*38:01:01:18 differs from the HLA-B*38:01:01:01 allele by one nucleotide substitution in the 5'UTR.
Subject(s)
5' Untranslated Regions , Alleles , HLA-B Antigens , High-Throughput Nucleotide Sequencing , Humans , High-Throughput Nucleotide Sequencing/methods , HLA-B Antigens/genetics , Exons , Histocompatibility Testing/methods , Base Sequence , Polymorphism, Single Nucleotide , Sequence Alignment , Sequence Analysis, DNA/methodsABSTRACT
HLA-B*07:02:01:110 differs from the HLA-B*07:02:01:01 allele by two nucleotide substitutions in the 3'UTR.
Subject(s)
3' Untranslated Regions , Alleles , Base Sequence , High-Throughput Nucleotide Sequencing , Histocompatibility Testing , Humans , High-Throughput Nucleotide Sequencing/methods , Histocompatibility Testing/methods , HLA-B7 Antigen/genetics , Exons , Sequence Analysis, DNA/methods , Sequence AlignmentABSTRACT
HLA-A*32:01:01:41 differs from the HLA-A*32:01:01:01 allele by one nucleotide substitution in the intron 3.
Subject(s)
Alleles , Exons , HLA-A Antigens , High-Throughput Nucleotide Sequencing , Histocompatibility Testing , Introns , Humans , High-Throughput Nucleotide Sequencing/methods , HLA-A Antigens/genetics , Histocompatibility Testing/methods , Base Sequence , Polymorphism, Single Nucleotide , Sequence Analysis, DNA/methods , Sequence AlignmentABSTRACT
HLA-B*47:01:01:07 differs from the HLA-B*47:01:01:03 allele by one nucleotide deletion in the 3'UTR.
Subject(s)
Bone Marrow , Genes, MHC Class I , Humans , Alleles , Greece , HLA-B Antigens/geneticsABSTRACT
HLA-C*17:01:01:29 differs from the HLA-C*17:01:01:05 allele by one nucleotide substitution in the 3'UTR.
Subject(s)
Genes, MHC Class I , HLA-C Antigens , Humans , HLA-C Antigens/genetics , Greece , Alleles , 3' Untranslated RegionsABSTRACT
HLA-C*04:01:01:174 differs from the HLA-C*04:01:01:06 allele by one nucleotide substitution in the intron 5.
Subject(s)
Genes, MHC Class I , HLA-C Antigens , Humans , HLA-C Antigens/genetics , Greece , Alleles , IntronsABSTRACT
HLA-C*01:02:01:70 differs from the HLA-C*01:02:01:01 allele by one nucleotide substitution in the intron 4.
Subject(s)
Genes, MHC Class I , HLA-C Antigens , Humans , HLA-C Antigens/genetics , Greece , Alleles , IntronsABSTRACT
HLA-B*41:02:01:11 and -C*08:266 were detected in a solid organ recipient during the HLA typing process.
Subject(s)
Genes, MHC Class I , Genomics , Humans , Alleles , HLA-B Antigens/genetics , Histocompatibility TestingABSTRACT
HLA-A*01:01:01:112 differs from the HLA-A*01:01:01:01 allele by one nucleotide substitution in the 5'UTR.
Subject(s)
Bone Marrow , HLA-A Antigens , Humans , Alleles , Greece , 5' Untranslated Regions , HLA-A Antigens/geneticsABSTRACT
In the realm of DNA testing with legal implications, the reliability and precision of genetic markers play a pivotal role in confirming or negating paternity claims. This study aimed to assess the potential utility of human leukocyte antigen (HLA) gene polymorphism through massively parallel sequencing (MPS) technology as robust forensic markers for parentage testing involving genetic deficiencies. It sought to redefine the significance of HLA genes in this context. Data on autosomal short tandem repeat (aSTR) mutational events across 18 paternity cases involving 16 commonly employed microsatellite loci were presented. In instances where traditional aSTR analysis failed to establish statistical certainty, kinship determination was pursued via HLA genotyping, encompassing the amplification of 17 linked HLA loci. Within the framework of this investigation, phase-resolved genotypes for HLA genes were meticulously generated, resulting in the definition of 34 inherited HLA haplotypes. An impressive total of 274 unique HLA alleles, which were classified at either the field 3 or 4 level, were identified, including the discovery of four novel HLA alleles. Likelihood ratio (LR) values, which indicated the likelihood of the observed data under a true biological relationship versus no relationship, were subsequently calculated. The analysis of the LR values demonstrated that the HLA genes significantly enhanced kinship determination compared with the aSTR analysis. Combining LR values from aSTR markers and HLA loci yielded conclusive outcomes in duo paternity cases, showcasing the potential of HLA genes and MPS technology for deeper insights and diversity in genetic testing. Comprehensive reference databases and high-resolution HLA typing across diverse populations are essential. Reintegrating HLA alleles into forensic identification complements existing markers, creating a potent method for future forensic analysis.
Subject(s)
DNA Fingerprinting , Paternity , Polymorphism, Genetic , Humans , Alleles , DNA Fingerprinting/methods , High-Throughput Nucleotide Sequencing/methods , HLA Antigens/genetics , Reproducibility of ResultsABSTRACT
HLA-B*51:01:01:109 differs from HLA-B*51:01:01:01 by one nucleotide substitution in intron 5.
Subject(s)
HLA-B Antigens , High-Throughput Nucleotide Sequencing , Humans , Alleles , Greece , HLA-B Antigens/geneticsABSTRACT
HLA-A*02:01:01:243 differs from the HLA-A*02:01:01:01 allele by one nucleotide substitution in the 5'UTR.
Subject(s)
HLA-A Antigens , High-Throughput Nucleotide Sequencing , Humans , Alleles , Greece , 5' Untranslated Regions , HLA-A Antigens/geneticsABSTRACT
HLA-B*18:01:01:73 differs from HLA-B*18:01:01:02 by one nucleotide substitution in intron 2.
Subject(s)
HLA-B Antigens , High-Throughput Nucleotide Sequencing , Humans , Alleles , Greece , HLA-B Antigens/genetics , Genes, MHC Class IABSTRACT
HLA-A*02:05:01:23 differs from HLA-A*02:05:01:01 by one nucleotide substitution in intron 6.