Identification of a novel HLA allele HLA-B*40:96 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 517-520, 2011.
Article
in Chinese
| WPRIM
| ID: wpr-326902
ABSTRACT
<p><b>OBJECTIVE</b>To identify a novel human leukocyte antigen (HLA) allele in Chinese and investigate its inheritance in the family.</p><p><b>METHODS</b>Exceptional reaction pattern was detected in HLA-B locus in HLA typing using Luminex DNA polymerase chain reaction with sequence specific oligonucleotide probe hybridization (PCR-SSOP) assay. A confirmatory test for the novel HLA allele was performed by DNA sequencing based typing of the proband's family.</p><p><b>RESULTS</b>The DNA sequence was confirmed to be a novel HLA B allele. There were 7 nucleotides which differed from the closest matching HLA B*400601 at positions 302(G to A), 309(G to C), 311(A to C), 313(C to G), 314(T to C), 317(G to T), and 319(G to C) in exon 2, which resulted in 5 amino acid changes at codon 101 (Ser to Asn), 104 (Asn to Thr), 105 (Leu to Ala), 106 (Arg to Leu), and 107 (Gly to Arg), respectively. Family investigation indicated that the novel allele was transmitted from the proband's father.</p><p><b>CONCLUSION</b>A novel HLA B allele was identified and officially named as HLA-B*4096 (GenBank accession No. FJ374890) by the WHO Nomenclature Committee for Factors of the HLA System.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Haplotypes
/
Histocompatibility Testing
/
Molecular Sequence Data
/
Base Sequence
/
HLA-B Antigens
/
Sequence Alignment
/
Alleles
/
Genetics
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Female
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2011
Type:
Article
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