Experimental and Clinical Immunogenetics

‘Protein Displays of the Human T Cell Receptor Alpha, Beta, Gamma and Delta Variable and Joining Regions’, the 13th report of the ‘IMGT Locus in Focus’ section, comprises 8 figures: (1) ‘Protein display of the human TRA V-REGIONs’; (2) ‘Protein display of the human TRB V-REGIONs’; (3) ‘Protein display of the human TRG V-REGIONs’; (4) ‘Protein display of the human TRD V-REGIONs’; (5) ‘Protein display of the human TRA J-REGIONs’; (6) ‘Protein display of the human TRB J- REGIONs’; (7) ‘Protein display of the human TRG J-REGIONs’; (8) ‘Protein display of the human TRD J-REGIONs’, and 4 tables entitled: (1) ‘FR-IMGT and CDR-IMGT length of the human TRAV genes’; (2) ‘FR-IMGT and CDR-IMGT length of the human TRBV genes’; (3) ‘FR-IMGT and CDR-IMGT length of the human TRGV genes’; (4) ‘FR-IMGT and CDR-IMGT length of the human TRDV genes’. These figures and 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, Montpellier, France.

Géraldine Folch

Dominique Scaviner

Valérie Contet

Marie-Paule Lefranc

Protein Displays of the Human T Cell Receptor Alpha, Beta, Gamma and Delta Variable and Joining Regions

人T细胞受体α、β、γ和δ可变区及连接区的蛋白质展示

Futoshi Nakao

Kenji Ihara

Saifuddin Ahmed

Yuka Sasaki

Koichi Kusuhara

Akira Takabayashi

Sankei Nishima

Toshiro Hara

Jianming Tang

Eknath Naik

Caroline Costello

Etienne Karita

Charles Rivers

Susan Allen

Richard A. Kaslow

A. Fraile

M.D. Collado

L. Matarán

J. Martín

A. Nieto

Nathalie Bosc

Hideo Kaneko

Toshiyuki Fukao

Ryousuke Inoue

Kimiko Kasahara

Eiko Matsui

Naomi Kondo

Contents Vol. 17, 2000

目录 第17卷，2000年

‘The Mouse &lt;i&gt;(Mus musculus)&lt;/i&gt; T cell Receptor Beta Variable (TRBV), Diversity (TRBD), and Joining (TRBJ) Genes’, the 14th report of the ‘IMGT Locus in Focus’ section, comprises 8 tables entitled: (1) ‘Number of mouse &lt;i&gt;(Mus musculus)&lt;/i&gt; germline TRBV genes at 6A–C and potential repertoire’; (2) ‘Mouse &lt;i&gt;(Mus musculus) &lt;/i&gt;germline TRBV genes at 6A–C’; (3) ‘Mouse &lt;i&gt;(Mus musculus)&lt;/i&gt; TRBV allele table’; (4) ‘Mouse &lt;i&gt;(Mus musculus)&lt;/i&gt; germline TRBD genes and alleles’; (5) ‘Mouse &lt;i&gt;(Mus musculus) &lt;/i&gt;germline TRBJ genes’; (6) ‘Mouse &lt;i&gt;(Mus musculus)&lt;/i&gt; TRBJ allele table’; (7) ‘Correspondence between the different mouse &lt;i&gt;(Mus musculus)&lt;/i&gt; TRBV gene nomenclatures’; (8) ‘Mouse &lt;i&gt;(Mus musculus)&lt;/i&gt; TRBV genes and related human TRBV genes’. 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, Montpellier, France.

The Mouse &lt;i&gt;(Mus musculus)&lt;/i&gt; T Cell Receptor Beta Variable (TRBV), Diversity (TRBD) and Joining (TRBJ) Genes

小鼠（Mus musculus）T细胞受体β链可变区（TRBV）、多样性（TRBD）和连接区（TRBJ）基因

Interleukin (IL)-4 and IL-13 play key roles in the development of atopic asthma. The IL-13 receptor (R) α′ chain is a component of both IL-4R and IL-13R complexes. By screening the whole coding region of the IL-13Rα′ gene for polymorphisms, we identified a new polymorphism at nucleotide position 1050 from the ATG start codon. The allelic frequency of the C/T polymorphism in the Japanese population was found to be 0.97:0.03. Because of the low frequency of the T allele, the association study failed to indicate any significant association between this polymorphism and atopic asthma in the Japanese population. Further studies are required in other racial groups with higher frequencies of this polymorphism to elucidate the association.

Tokihiko Fujino

Novel Polymorphism in the Coding Region of the IL-13 Receptor Alpha’ Gene: Association Study with Atopic Asthma in the Japanese Population

IL-13受体α基因编码区的新型多态性：与日本人群特应性哮喘的关联研究

‘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 &lt;i&gt;IMGT&lt;/i&gt;, the international ImMunoGeneTics database &lt;i&gt;(http://imgt.cines.fr:8104)&lt;/i&gt; created by Marie-Paule Lefranc, Université Montpellier II, CNRS, France.

The Human T Cell Receptor Alpha Variable (TRAV) Genes

人T细胞受体α变异（TRAV）基因

The aim of the present study was to compare the frequencies of the F allele of C3 complement component and the Leiden mutation of coagulation factor V in patients with severe coronary heart disease (CHD) who survived myocardial infarction (MI; group A), and those who had no MI in their case history (group B). We have determined the C3 allele frequencies by electrophoresis, and Leiden mutation by PCR in 338 patients with severe CHD and in 490 and 523 healthy controls, respectively. The C3*F allele frequency was significantly (p = 0.006) higher in group A (0.213) that in group B (0.132). A significant (p = 0.045) difference was found between ≤60-year group A (0.077) and group B (0.029) patients in the frequency of Leiden mutation. These findings indicate that the C3*F allele and the Leiden mutation may be associated with an increased risk of developing myocardial infarction in CHD patients.

Albert Császár

Jenõ Duba

Béla Melegh

Judith Kramer

Csaba Szalai

Zoltán Prohászka

István Karádi

Margit Kovács

Károly Méhes

László Romics

George Füst

Increased Frequency of the C3*F Allele and the Leiden Mutation of Coagulation Factor V in Patients with Severe Coronary Heart Disease Who Survived Myocardial Infarction

C3*F等位基因和凝血因子V莱顿突变在严重冠心病患者中的频率增加，这些患者曾发生心肌梗死并存活

'The Mouse (Mus musculus) T Cell Receptor Delta Variable (TRDV), Diversity (TRDD) and Joining (TRDJ) Genes', the 15th report of the 'IMGT Locus in Focus' section, comprises 7 tables entitled: (1) 'Number of mouse (Mus musculus) germline TRDV genes at 14D1-D2 and potential repertoire'; (2) 'Mouse (Mus musculus) germline TRDV genes at 14D1-D2'; (3) 'Mouse (Mus musculus) TRDV allele table'; (4) 'Mouse (Mus musculus) germline TRDD genes and alleles'; (5) 'Mouse (Mus musculus) germline TRDJ genes'; (6) 'Mouse (Mus musculus) TRDJ allele table', and (7) 'Correspondence between the different mouse (Mus musculus) TRDV gene nomenclatures'. 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, Montpellier, France.

The Mouse &lt;i&gt;(Mus musculus)&lt;/i&gt; T Cell Receptor Delta Variable (TRDV), Diversity (TRDD) and Joining (TRDJ) Genes

小鼠（Mus musculus）T细胞受体Delta可变区（TRDV）、多样性（TRDD）和连接区（TRDJ）基因

K. Bauer

Editorial

社论

The fourth component of complement (C4) is coded for by two tandem-duplicated genes located in the class III region of the MHC of humans as well as a number of primates. A C4 gene size polymorphism giving rise to two gene variants of 16 and 22.3 kb length can be attributed to a complete endogenous retroviral insertion of 6.3 kb termed ERV-K(C4) in intron 9 of the long C4 genes. We developed a simple PCR-based screening assay to detect the presence of this insertion, and tested a number of unrelated animals from old world primate species. The presence of the ERV insertion in the orangutan, rhesus macaque and green monkey as well as its absence in gorillas and chimpanzees could be confirmed. In addition, the insertion was also detected in the baboon and the cynomolgus macaque whereas it was not found in a single gibbon. Among rhesus and cynomolgus macaques one individual was identified in each species only carrying short C4 genes demonstrating further structural heterogeneity in these species. Based on these findings we propose that the primigenial retroviral integration occurred prior to the radiation of old world primate species, and that both the long and the short forms of the C4 gene have existed side by side since then.

Peter M. Schneider

Konstanze Witzel-Schlömp

Constanze Steinhauer

Beate Stradmann-Bellinghausen

Christian Rittner

Rapid Detection of the ERV-K(C4) Retroviral Insertion Reveals Further Structural Polymorphism of the Complement C4 Genes in Old World Primates

ERV-K(C4)逆转录病毒插入的快速检测揭示了旧世界灵长类动物补体C4基因的进一步结构多态性

&lt;i&gt;Objective: &lt;/i&gt;To determine whether the immunoglobulin heavy chain genes contribute to the occurrence of bullous pemphigoid (BP), polymorphisms of both the immunoglobulin constant IGHC and variable IGHV groups were studied in 100 Caucasian BP patients and 143 ethnically matched healthy individuals. &lt;i&gt;Methods:&lt;/i&gt; To analyze the restriction fragment length polymorphism (RFLP) of the IGHG constant locus, a genomic immunoglobulin gamma 3 probe which detects polymorphisms in the gamma constant genes was hybridized to &lt;i&gt;Bst&lt;/i&gt;EII- or &lt;i&gt;Bam&lt;/i&gt;HI/&lt;i&gt;Sac&lt;/i&gt;I-digested germline DNA, while IGHV3 subgroup polymorphism was analyzed by hybridizing a cloned VH3 probe to &lt;i&gt;Eco&lt;/i&gt;RI-digested DNA. &lt;i&gt;Results:&lt;/i&gt; No difference in the frequencies of the genotypes defined by the constant probe was observed between patients and controls. Analysis of the RFLP obtained with the VH3 probe showed that within the range of 4.5 and 1.5 kb, the observed band pattern was composed of 8 monomorphic and 7 polymorphic bands. Among the latter, 4 allowed to define 10 different restriction patterns. One pattern was shown to be significantly less frequent in patients than in controls. &lt;i&gt;Conclusion: &lt;/i&gt;IGHV3 polymorphism might be a factor conferring susceptibility to BP.

Grégory Raux

Danièle Gilbert

Pascal Joly

Philippe Martel

Jean-Claude Roujeau

Catherine Prost

François Tron

IGHV3-Associated Restriction Fragment Length Polymorphisms Confer Susceptibility to Bullous Pemphigoid

IGHV3相关限制性片段长度多态性增加大疱性类天疱疮易感性

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Experimental and Clinical Immunogenetics

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