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1.
Tissue Antigens ; 58(2): 107-8, 2001 Aug.
Article in English | MEDLINE | ID: mdl-11696226

ABSTRACT

A novel HLA-Cw*15 allele, Cw*1510, found in a French Caucasian bone marrow recipient is described. Nucleotide sequence of the new variant is identical to the common Cw*15021 DNA sequences except nucleotides at positions 32 and 61 of exon 2. While the first difference is silent, the second cause substitution of an Histidine by an Arginine at amino acid position 21 of the alpha1 heavy chain domain.


Subject(s)
HLA-C Antigens/genetics , White People/genetics , Alleles , Amino Acid Substitution/genetics , Base Sequence , Exons , France , Humans , Molecular Sequence Data
2.
Genes Immun ; 2(1): 4-10, 2001 Feb.
Article in English | MEDLINE | ID: mdl-11294566

ABSTRACT

Cellular responses to synthetic peptides from the Liver Stage Antigen-1 (LSA-1) from Plasmodium falciparum were determined in 229 Gabonese children. HLA class I and II typing (by PCR-SSP and -RFLP, respectively) revealed that HLA-A*19, -B*17 (and -B*70), -DRB1*05, -DQA1*0102, -DQB1*0602 and -DPB1*0402 were the most frequent types or alleles at each locus. The DQB1*0201 and DQB1*0301 alleles were present at a higher frequency among IL-6 and IFN-gamma responders to the LSA-Rep and LSA-CTL peptides, respectively, and a higher proportion of these responders carried A*19 or B*53. The DRB1*06 type was positively related to the IL-10 production in response to the LSA-CTL peptide, and responders presented mainly A*2. The specificity A*10 was negatively associated with the cellular response to the LSA-J peptide. These results suggest a degree of genetic regulation of specific immune responses by HLA-A, operating at the pre-erythrocytic stage of development of P. falciparum in this Central African population.


Subject(s)
Alleles , Antigens, Protozoan/immunology , HLA Antigens/genetics , Plasmodium falciparum/immunology , Amino Acid Sequence , Animals , Child , Gabon , Genetic Predisposition to Disease , Histocompatibility Testing , Humans , Malaria, Falciparum/genetics , Malaria, Falciparum/immunology , Molecular Sequence Data
3.
Hum Immunol ; 61(5): 467-73, 2000 May.
Article in English | MEDLINE | ID: mdl-10773349

ABSTRACT

A novel HLA-B*39 variant, found in an African patient with sickle cell anemia undergoing bone marrow transplantation is described. Initially suspected by inconsistent serological typing (B-blank, Bw6), then recognized by PCR-SSP, and finally characterized by nucleotide sequencing, this novel allele is designated HLA-B*3916. It differs from HLA-B*3910 by a point mutation (G to C) at position 17 of exon 3 causing glutamine to histidine change at codon 96 of alpha(2) domain, a conserved position among HLA class I alleles. cDNA sequence analysis further revealed the presence of both normally and abnormally spliced mRNA species in established cell lines. The abnormal species correspond to partial truncation of exon 3 presumably due to the nucleotide change in exon 3, which constitutes a new consensus acceptor splice site within this exon. We postulate that the observed blank is essentially the consequence of qualitative change in a critical region of this novel antigen as abnormal mRNA species are relatively less abundant than normal species. Because the residue 96 of the HLA class I heavy chain is directly involved in interaction with alpha(2)m, another interesting possibility is that an aminoacid change in this position would perturb such interaction and consequently could affect the serological specificity of B*3916, or its expression or both.


Subject(s)
HLA-B Antigens/genetics , Mutation , RNA Splicing , Amino Acid Sequence , Base Sequence , Female , HLA-B39 Antigen , Humans , Male , Molecular Sequence Data , Pedigree , Reading Frames , Sequence Homology, Nucleic Acid
4.
Tissue Antigens ; 55(2): 182-4, 2000 Feb.
Article in English | MEDLINE | ID: mdl-10746794

ABSTRACT

We report here an additional HLA-B*51 variant designated HLA-B*5116. Detected by an abnormal serological reactivity pattern, this variant was identified as a B*51 allele by polymerase chain reaction using sequence-specific primers (PCR-SSP) and characterized by nucleotide sequencing. The new variant sequence match closely with the classical HLA-B*5101 excepted two adjacent nucleotide substitutions at positions 216 and 217 of the third exon and the subsequent Leucine to Glutamic acid change at codon 163 of the alpha2 domain (CTG-->GAG). This new variant was not detected in three different ethnic groups (French, Algerian and Lebanese) suggesting a very rare frequency.


Subject(s)
Alleles , HLA-B Antigens/genetics , Amino Acid Sequence , Base Sequence , DNA, Complementary , HLA-B Antigens/classification , HLA-B51 Antigen , Humans , Molecular Sequence Data , Sequence Analysis, DNA/methods , Sequence Homology, Nucleic Acid
5.
Tissue Antigens ; 53(6): 601-3, 1999 Jun.
Article in English | MEDLINE | ID: mdl-10395115

ABSTRACT

The sequence of a new HLA-Cw*04 allele has been identified in a Laotian family. This allele, designated Cw*0406, differs from Cw*0403 by a single nucleotide substitution at codon 156 (CGG-->CTG) in the alpha2 domain, leading to an amino acid change from Arginine to Leucine. Further screening by specific amplification of two ethnically different populations, i.e. French (n=150) and Lebanese (n=100), provided no case of Cw*406, suggesting that the distribution of this allele may be restricted.


Subject(s)
Alleles , HLA-C Antigens/genetics , Amino Acid Substitution/genetics , Amino Acid Substitution/immunology , Arginine/genetics , Asian People/genetics , Codon/genetics , Exons/immunology , Female , Humans , Laos , Leucine/genetics , Male , Molecular Sequence Data , Mutation , Pedigree
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