Experimental and clinical immunogenetics最新文献

'Human T cell Receptor Alpha Joining Genes', the 9th report of the 'IMGT Locus in Focus' section, comprises 3 tables: (1) 'Human germline TRAJ genes'; (2) 'Human TRAJ allele table'; and (3) 'Nucleotide and protein displays of the human TRAJ alleles (overview)'. These tables are available on the IMGT Marie-Paule page from IMGT, the international ImMunoGeneTics database (http://imgt. cines.fr:8104) created in 1989 by Marie-Paule Lefranc, Université Montpellier II, CNRS, France.

We examined the relative contributions of three representative candidate genes for atopy (Fc epsilon receptor I beta, IL-4, and IL-4 receptor alpha) to the development of atopic asthma. Four polymorphisms of the three candidate genes including Ile50Val and Gln551Arg of IL-4 receptor alpha, -590C/T of IL-4 promoter and Glu237Gly of Fc epsilon receptor I beta were studied in 100 patients with atopic asthma and 100 nonatopic controls in the northern Kyushu area in Japan. Among the four polymorphisms of the three candidate genes, the Ile50 allele of the IL-4 receptor alpha chain gene demonstrated an association with atopic asthma subjects (p = 0.044), especially in patients with onset at 2 years of age or earlier (p = 0.034) and in patients with moderate to severe atopic asthma (p = 0. 031). Gln551Arg of IL-4 receptor alpha, -590C/T of IL-4 promoter and Glu237Gly of Fc epsilon receptor I beta showed no association with atopic asthma. A slight linkage disequilibrium between Ile50Val and Gln551Arg polymorphisms of the IL-4 receptor alpha chain gene was observed in both patients and nonatopic controls. The identification of additional atopy genes in areas with a certain genetic background is essential for genetic diagnosis and to establish new therapeutic modalities for atopic asthma.

Objective: To define HLA class I and class II polymorphisms in Rwandans.

Methods: PCR-based HLA genotyping techniques were used to resolve variants of HLA-A, B, and C to their 2- or 4-digit allelic specificities, and those of DRB1 and DQB1 to their 4- or 5-digit alleles.

Results: Frequencies of 14 A, 8 C, and 14 B specificities and of 13 DRB1 and 8 DQB1 alleles were >/=0.02 in a group of 280 Rwandan women. These major HLA factors produced 6 haplotypes extending across the class I and class II regions: A*01-Cw*04-B* 4501-DRB1*1503-DQB1*0602 (A1-Cw4-B12- DR15 - DQ6), A * 01 - Cw * 04 - B * 4901 -DRB1 * 1302-DQB1*0604 (A1-Cw4-B21-DR13-DQ6), A*30 - Cw*04 - B*15 - DRB1*1101 - DQB1*0301 (A19-Cw4-B15-DR11-DQ7), A*68-Cw*07-B* 4901-DRB1*1302-DQB1*0604(A28-Cw7-B21- DR13 - DQ6), A*30 - Cw*07 - B*5703 - DRB1* 1303-DQB1*0301(A19 - Cw7 - B17 - DR13 - DQ7), and A*74-Cw*07-B*4901-DRB1*1302-DQB1* 0604 (A19-Cw7-B21-DR13-DQ6), respectively. Collectively, these extended haplotypes accounted for about 19% of the total. Other apparent class I-class II haplotypes (e.g., Cw*17-B*42-DRB1*0302-DQB1*0402, Cw*06- B*58-DRB1*1102-DQB1*0301, and Cw*03- B*15-DRB1*03011-DQB1*0201) did not extend to the telomeric HLA-A locus, and other 3-locus class I haplotypes (e.g., A*68-Cw*04-B*15, A*74-Cw*04-B*15, and A*23-Cw*07-B*4901) completely or partially failed to link with any specific class II alleles.

Discussion: Frequent recombinations appeared to occur between the three evolutionarily conserved HLA blocks carrying the class I and class II loci. The HLA class I profile seen in Rwandans was not directly comparable with those known in the literature, although the class II profile appeared to resemble those in several African populations. These data provide additional evidence for the extensive genetic diversity in Africans.

'Teleostei Immunoglobulin Heavy IGH Genes', the eleventh report of the 'IMGT Locus in Focus' section, comprises four tables: (1) 'Teleostei IGHV genes'; (2) 'Teleostei germline IGHJ genes'; (3) 'Teleostei IGHC genes and alleles'; (4) 'FR-IMGT and CDR-IMGT length of the Teleostei IGHV genes'. These tables are available at the IMGT Marie-Paule page from IMGT, the international ImMunoGeneTics database (http://imgt.cines.fr: 8104) created in 1989 by Marie-Paule Lefranc, Université Montpellier II, CNRS, France.

'Human T Cell Receptor Beta Variable (TRBV) Genes', the seventh report of the 'IMGT Locus on Focus' section, comprises four tables: (1) 'Number of human germline TRBV genes at 7q35 and potential repertoire'; (2) 'Human germline TRBV genes at 7q35'; (3) 'Human TRBV orphons on chromosome 9 (9p21)', and (4) 'Human TRBV allele table'. These tables are available at the IMGT Marie-Paule page from IMGT, the international ImMunoGeneTics database (http://imgt.cines. fr: 8104) created by Marie-Paule Lefranc, Université Montpellier II, CNRS, France.

The MHC complement gene cluster (MCGC) in most people contains thirteen structural genes, pseudogenes and gene segments. Novel genes RD, SKI2W, DOM3Z and RP1 are organized as two head-to-head gene pairs between complement gene Bf and the first locus of C4. Southern blot analysis shows that single-copy genes for DOM3Z are detectable in primates and other mammals. Sequence analyses revealed that the exon- intron structures of human and mouse DOM3Z genes are identical. Both human and mouse DOM3Z transcripts exhibit splice variants at the 5' regions, although the open reading frames remain identical. Cloning and characterization of the mouse RP1 cDNA revealed a reading frame for 254 amino acids with a bipartite nuclear localization signal close to the amino terminus. The mouse RP1 gene consists of 7 exons and spans 12.9 kb. Located in intron 4 of mouse RP1 is an endogenous retrovirus that probably confers the androgen-responsive expression of the Slp protein in certain male mice. The availability of the complete human and mouse MCGC genomic and cDNA sequences allows further deliberate analyses of gene duplications and evolution. The intergenic region between mouse SLP and C4 genes is more than six times larger than the corresponding region in humans. It contains the functional gene steroid CYP21A, long stretches of repetitive DNA elements, and three partially duplicated gene segments TNXA, SKI2W2 and RP2. The modular duplications of human and mouse RP-C4-CYP21-TNX (RCCX) are sharply different as SKI2W2 is absent in the human MCGC, and TNXA and RP2 are smaller in size but higher in sequence conservation in humans.

'Human T Cell Receptor Alpha Variable (TRAV) Genes', the eighth report of the 'IMGT Locus in Focus' section, comprises four tables: (1) 'Number of human germline TRAV genes at 14q11 and potential repertoire'; (2) 'Human germline TRAV genes at 14q11'; (3) 'Human TRAV allele table', and (4) 'Correspondence between the different human TRAV gene nomenclatures'. These tables are available at the IMGT Marie-Paule page of IMGT, the international ImMunoGeneTics database (http://imgt.cines.fr:8104) created by Marie-Paule Lefranc, Université Montpellier II, CNRS, France.