Experimental and clinical immunogenetics最新文献_第5页

A simple estimate of the general population frequency of the MHC susceptibility gene for autoimmune polygenic disease. 自身免疫性多基因疾病的MHC易感基因的一般人群频率的简单估计。

Experimental and clinical immunogenetics Pub Date : 2000-01-01 DOI: 10.1159/000019133

C A Alper, D P Dubey, E J Yunis, Z Awdeh

{"title":"A simple estimate of the general population frequency of the MHC susceptibility gene for autoimmune polygenic disease.","authors":"C A Alper, D P Dubey, E J Yunis, Z Awdeh","doi":"10.1159/000019133","DOIUrl":"https://doi.org/10.1159/000019133","url":null,"abstract":"We wished to determine the frequencies of the MHC and non-MHC susceptibility genes for polygenic autoimmune diseases like type 1 diabetes (IDDM). We used Mendelian inheritance and the Hardy-Weinberg equilibrium to calculate the frequencies of mating pairs and susceptible offspring under classical recessive and dominant inheritance of the MHC susceptibility gene. We then analyzed the distribution of haplotype sharing by affected sib pairs of the 4 MHC haplotypes in each of the kinds of mating pairs in terms of the frequency of the disease susceptibility gene. For IDDM, the analysis was consistent with a recessive, but not a dominant, MHC susceptibility gene of frequency 0.525 at a distribution of 55, 38 and 7% of affected sib pairs who share 2, 1 and 0 MHC haplotypes, respectively. A simple relationship was obtained: if inheritance is recessive, the MHC susceptibility gene frequency is the square root of the fraction of affected sib pairs who share no MHC haplotypes multiplied by 4. For recessive inheritance, affected sib pairs who share no haplotypes are solely in families where both parents are homozygous MHC-susceptible. Although homozygous MHC susceptibles represent over 25% of the population, only 2-3% of them are IDDM-susceptible at non-MHC susceptibility loci, also required for disease expression. Predictions from our analysis fit all published observations of the familial occurrence of disease. The analysis is general, simple and provides a single estimate (not a range) of the MHC susceptibility gene frequency. This approach should be applicable to other MHC-determined polygenic diseases.","PeriodicalId":77124,"journal":{"name":"Experimental and clinical immunogenetics","volume":"17 3","pages":"138-47"},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000019133","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21740636","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 12

Rapid purification of human DNase I using mouse monoclonal anti-DNase I antibodies and characterization of the antibodies. 用小鼠单克隆抗dna酶I抗体快速纯化人dna酶I及抗体的鉴定。

Experimental and clinical immunogenetics Pub Date : 2000-01-01 DOI: 10.1159/000019126

T Nakajima, T Yasuda, H Takeshita, Y Nakashima, S Mori, K Mogi, K Kishi

引用次数: 9

The telostei immunoglobulin light IGL1 and IGL2 V, J and C genes. 远骨免疫球蛋白轻IGL1和IGL2 V、J和C基因。

Experimental and clinical immunogenetics Pub Date : 2000-01-01 DOI: 10.1159/000019135

S Artéro, M P Lefranc

引用次数: 18

Ontogeny recapitulates phylogeny: comparative immunology in Germany. 个体发育概括了系统发育:德国的比较免疫学。

Experimental and clinical immunogenetics Pub Date : 2000-01-01 DOI: 10.1159/000019127

E L Cooper, T C Bosch

引用次数: 1

The human T cell receptor beta diversity (TRBD) and beta joining (TRBJ) genes. 人类T细胞受体β多样性(TRBD)和β连接(TRBJ)基因。

Experimental and clinical immunogenetics Pub Date : 2000-01-01 DOI: 10.1159/000019130

G Folch, M P Lefranc

引用次数: 40

Long-term study of a female hyper-IgM immunodeficiency. 女性高igm免疫缺陷的长期研究。

Experimental and clinical immunogenetics Pub Date : 2000-01-01 DOI: 10.1159/000019136

H Kaneko, T Fukao, R Inoue, K Kasahara, E Matsui, N Kondo

{"title":"Long-term study of a female hyper-IgM immunodeficiency.","authors":"H Kaneko, T Fukao, R Inoue, K Kasahara, E Matsui, N Kondo","doi":"10.1159/000019136","DOIUrl":"https://doi.org/10.1159/000019136","url":null,"abstract":"Hyper-IgM immunodeficiency (HIM) is an immunological disorder characterized by normal or elevated serum IgM levels, and reduced serum IgG and IgA levels, due to the disruption of immunoglobulin class switching in B cells. X-linked hyper-IgM is caused by the defective expression of the CD40 ligand on activated T cells, which induces immunoglobulin class switching along with some cytokines, such as interleukin 4, by the signal transduction of CD40 in B cells. We report on a Japanese girl who initially showed low serum IgM, IgG and IgA levels like patients with common variable immunodeficiency; however, in the course of time, serum IgG levels became reduced and serum IgM levels increased, resulting in the typical immunoglobulin profile of HIM. Neutropenia, one of the features of X-linked HIM, was not observed. In spite of extremely low serum IgG levels, she did not show any predisposition to severe infection, even without gammaglobulin replacement therapy. No mutation of the CD40 ligand or CD40 was detected. Sequencing of the complementarity-determining region of immunoglobulin heavy-chain genes in peripheral B lymphocytes revealed that they were all in frame, and insertion of the N region was detected. These results indicate that the heavy-chain gene rearrangement in the patient's B cells is intact. Non-X-linked HIM has heterogeneous pathogenetic mechanisms, and some groups may show the resistance to infection at the healthy donor level. The underlying defects in non-X-linked HIM might be specifically involved in class switching.","PeriodicalId":77124,"journal":{"name":"Experimental and clinical immunogenetics","volume":"17 4","pages":"173-8"},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000019136","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21920515","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

Protein displays of the human T cell receptor alpha, beta, gamma and delta variable and joining regions. 蛋白质显示人类T细胞受体α， β， γ和δ变量和连接区域。

Experimental and clinical immunogenetics Pub Date : 2000-01-01 DOI: 10.1159/000019140

G Folch, D Scaviner, V Contet, M P Lefranc

{"title":"Protein displays of the human T cell receptor alpha, beta, gamma and delta variable and joining regions.","authors":"G Folch, D Scaviner, V Contet, M P Lefranc","doi":"10.1159/000019140","DOIUrl":"https://doi.org/10.1159/000019140","url":null,"abstract":"‘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.","PeriodicalId":77124,"journal":{"name":"Experimental and clinical immunogenetics","volume":"17 4","pages":"205-15"},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000019140","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21920519","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 39

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′基因编码区的新多态性:与日本人群中特应性哮喘的相关性研究

Experimental and clinical immunogenetics Pub Date : 2000-01-01 DOI: 10.1159/000019120

S Ahmed, K Ihara, Y Sasaki, F Nakao, S Nishima, T Fujino, T Hara

引用次数: 21

Two human gene families display preferences for different nucleotides and have distinct codon usage patterns. 两个人类基因家族表现出对不同核苷酸的偏好，并具有不同的密码子使用模式。

Experimental and clinical immunogenetics Pub Date : 2000-01-01 DOI: 10.1159/000019122

C Skerka, W O Abel, P F Zipfel

{"title":"Two human gene families display preferences for different nucleotides and have distinct codon usage patterns.","authors":"C Skerka, W O Abel, P F Zipfel","doi":"10.1159/000019122","DOIUrl":"https://doi.org/10.1159/000019122","url":null,"abstract":"Analysis of base composition has proven important for functional gene analysis. By comparing base composition and codon usage between two specific human gene families we were able to show a highly conserved nucleotide distribution among the members of one gene family and a significant difference between the two families. The two groups selected for analysis were the human factor H gene family, which represents six secreted human plasma proteins with functions in immune defense, and a class of four human zinc finger proteins, termed early growth response (EGR) proteins, which represent DNA-binding transcription factors. The nucleotide distribution of each gene family is distinct: members of the factor H gene family represent AT-rich genes, displaying an overall AT nucleotide content of 62.8% and a particular preference for A nucleotides (33.9%). In contrast, the EGR genes are GC-rich (55.9%) and C nucleotides are used in 31.2%. This nucleotide difference affects codon usage among synonymous codons and is considered of biological significance, as it affects DNA stability. The codon preference is particularly high at codon position 3, where each family selects for codons which have the preferred nucleotide at this silent third position. At position 3, A nucleotides are preferred by factor H genes in 36.3% of the 2, 503 codons analyzed, compared to 10% of the 1,876 codons analyzed for the EGR family. In contrast, C nucleotides are used by the EGR family in 48.1%, compared to 16% of the triplets used by the factor H gene family. This comparison of two human gene families shows that nucleotide distribution and codon usage is not uniform within the human organism and the described differences most likely represent selection constraints between the polymorphic factor H and highly conserved EGR genes.","PeriodicalId":77124,"journal":{"name":"Experimental and clinical immunogenetics","volume":"17 1","pages":"29-41"},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000019122","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21539672","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Lack of association between CD28/CTLA-4 gene polymorphisms and atopic asthma in the Japanese population. CD28/CTLA-4基因多态性与日本人群特应性哮喘之间缺乏相关性

Experimental and clinical immunogenetics Pub Date : 2000-01-01 DOI: 10.1159/000019137

F Nakao, K Ihara, S Ahmed, Y Sasaki, K Kusuhara, A Takabayashi, S Nishima, T Hara

引用次数: 39