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HLA-A null allele with a stop codon, HLA-A*0215N, identified in a homozygous state in a healthy adult.

Abstract：

:A healthy adult having no serologically detectable HLA class I A locus antigens was identified. The parents of the individual are consanguineous. Results of a family study indicated that the individual is homozygous for the B46-Cw1-DR8.1 haplotype, which was shown to be positively associated with A*0207 in our previous study. The HLA-A null individual is healthy and exhibits no apparent immunological abnormality. Total RNAs extracted from peripheral blood were converted to cDNAs. The reverse transcriptase-polymerase chain reaction (PCR) product, which is of the same size as the normally expressed gene, was easily obtained from the cDNAs with HLA-A locus-specific primers. The nucleotide sequence of this null allele (A*0215N) was the same as that of A*0207 except for a single nucleotide substitution which resulted in a stop codon in exon 4. From its nucleotide sequence, a truncated molecule was expected to be produced; however, the immunoprecipitation study failed to detect the predicted product. Genomic DNAs from 29 unrelated individuals who expressed only one HLA-A antigen with HLA-B46, were analyzed by a PCR-sequence-specific oligonucleotide method. None of the samples possessed this stop codon. Therefore, A*0215N is likely to be a rare allele generated by a single point mutation from A*0207.

journal_name

Immunogenetics

journal_title

Immunogenetics

authors

Ishikawa Y,Tokunaga K,Tanaka H,Nishimura M,Muraoka M,Fujii Y,Akaza T,Tadokoro K,Juji T

doi

10.1007/BF00186597

subject

Has Abstract

pub_date

1996-01-01 00:00:00

pages

1-5

issue

1-2

eissn

0093-7711

issn

1432-1211

journal_volume

43

pub_type

杂志文章

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