Abstract
In this report, we describe the identification of HLA-A*1112, a novel HLA-A*11 allele found in two Italian families. The new allele was detected during routine HLA typing by a polymerase chain reaction sequence-specific primer and was confirmed by high-resolution sequencing-based typing. The nucleotide sequences of HLA-A*1112 exons 2 and 3 are identical to HLA-A*11011 except for a single nucleotide substitution in codon 90 (GAC-->GCC).
MeSH terms
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Alleles*
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Amino Acid Sequence
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Amino Acid Substitution / genetics
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Base Sequence
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Codon / genetics
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Exons / genetics
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Family Health
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Fanconi Syndrome / diagnosis
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Fanconi Syndrome / genetics
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Female
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Frameshift Mutation
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Genetic Predisposition to Disease / genetics
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HLA-A Antigens / genetics*
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HLA-A11 Antigen
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Histocompatibility Testing*
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Humans
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Molecular Sequence Data
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Polymerase Chain Reaction
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Polymorphism, Single Nucleotide / genetics
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Sequence Alignment
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Sequence Analysis, DNA
Substances
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Codon
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HLA-A Antigens
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HLA-A11 Antigen