人类补体C2的遗传性结构多态性：C2与Bf之间存在基因连锁的证据。
Inherited structural polymorphism in human C2: evidence for genetic linkage between C2 and Bf.
作者信息
Alper C A
出版信息
J Exp Med. 1976 Oct 1;144(4):1111-5. doi: 10.1084/jem.144.4.1111.
Abstract
Structural variation in the second component of human complement was identified in about 4% of serum samples from random unrelated individuals of all the major races. Three forms of C2 have been identified by isoelectric focusing in polyacrylamide gel and development of patterns in agarose gel containing antibody-sensitized sheep red cells and C2-deficient serum: C2 C (common), C2 A (acidic), and C2 B (basic). The C2 variants were shown to be inherited as autosomal codominant traits, and suggestive evidence for close linkage between C2 and Bf was obtained.
摘要
在所有主要种族的随机无关个体的约4%血清样本中，发现了人类补体第二成分的结构变异。通过在聚丙烯酰胺凝胶中进行等电聚焦，并在含有抗体致敏绵羊红细胞和C2缺陷血清的琼脂糖凝胶中显影图谱，已鉴定出三种形式的C2：C2 C（常见型）、C2 A（酸性型）和C2 B（碱性型）。C2变体显示为常染色体共显性性状遗传，并获得了C2与Bf紧密连锁的提示性证据。
相似文献
1
Inherited structural polymorphism in human C2: evidence for genetic linkage between C2 and Bf.人类补体C2的遗传性结构多态性：C2与Bf之间存在基因连锁的证据。
J Exp Med. 1976 Oct 1;144(4):1111-5. doi: 10.1084/jem.144.4.1111.
2
Genetic polymorphism of the second component of human complement (C2): presentation of a modified typing technique and data on C2 phenotype distribution, linkage genetics, and haplotype associations a Norwegian family material.
Hum Genet. 1978 Jun 27;42(3):301-5. doi: 10.1007/BF00291310.
3
Polymorphism of factor B of the properdin system (C3PA, GBG, and Bf) and histocompatibility-complement linkage.备解素系统中B因子（C3PA、GBG和Bf）的多态性与组织相容性-补体连锁
Rev Fr Transfus Immunohematol. 1976 Sep;19(3):471-86. doi: 10.1016/s0338-4535(76)80022-0.
4
Detection of the genetic polymorphism of human C2 (native protein and C2a fragment) by immunoblotting after polyacrylamide gel isoelectric focusing.
Complement. 1985;2(4):185-92. doi: 10.1159/000467861.
5
Structural heterogeneity of C2 Complement protein and its genetic variants in man: a new polymorphism of the HLA region.人类C2补体蛋白的结构异质性及其基因变体：HLA区域的一种新多态性。
Proc Natl Acad Sci U S A. 1977 Apr;74(4):1672-5. doi: 10.1073/pnas.74.4.1672.
6
Polymorphism of the second component of human complement (C2). Observation of the rare phenotype (C2 2 (= C2 B) and data on the localization of the C2 locus in the HLA region.
Vox Sang. 1979;37(1):47-54. doi: 10.1111/j.1423-0410.1979.tb02268.x.
7
8
Polymorphism of human C2 detected by immunoblotting.
Hum Genet. 1985;70(4):355-8. doi: 10.1007/BF00295377.
9
10
Genetics of the complement system.补体系统的遗传学
Adv Hum Genet. 1976;7:141-88. doi: 10.1007/978-1-4757-0659-8_4.
引用本文的文献
1
Characterizing the diversity of MHC conserved extended haplotypes using families from the United Arab Emirates.利用来自阿拉伯联合酋长国的家族来描述 MHC 保守扩展单倍型的多样性。
Sci Rep. 2022 May 3;12(1):7165. doi: 10.1038/s41598-022-11256-y.
2
The Path to Conserved Extended Haplotypes: Megabase-Length Haplotypes at High Population Frequency.保守扩展单倍型之路：高群体频率下的兆碱基长度单倍型
Front Genet. 2021 Aug 6;12:716603. doi: 10.3389/fgene.2021.716603. eCollection 2021.
3
Genetic polymorphism of serum complement components in the chimpanzee.血清补体成分在黑猩猩中的遗传多态性。
Immunogenetics. 1980;10(5):455-68. doi: 10.1007/BF01572581.
4
HLA-DR6 (possibly DRB1*1301) is associated with susceptibility to Takayasu arteritis in Mexicans.HLA - DR6（可能是DRB1*1301）与墨西哥人患高安动脉炎的易感性相关。
Heart Vessels. 1996;11(6):277-80. doi: 10.1007/BF01747186.
5
Association of C4B deficiency (C4B*Q0) with erythema nodosum in leprosy.麻风病中C4B缺乏（C4B*Q0）与结节性红斑的关联。
Clin Exp Immunol. 1993 May;92(2):284-7. doi: 10.1111/j.1365-2249.1993.tb03393.x.
6
Linkage of pemphigus vulgaris antibody to the major histocompatibility complex in healthy relatives of patients.寻常型天疱疮抗体与患者健康亲属主要组织相容性复合体的关联。
J Exp Med. 1993 Feb 1;177(2):419-24. doi: 10.1084/jem.177.2.419.
7
Major histocompatibility complex susceptibility genes for dermatitis herpetiformis compared with those for gluten-sensitive enteropathy.疱疹样皮炎与麸质敏感性肠病的主要组织相容性复合体易感基因比较。
J Exp Med. 1993 Dec 1;178(6):2067-75. doi: 10.1084/jem.178.6.2067.
8
Organization and evolution of C4 and CYP21 genes in primates: importance of genomic segments.灵长类动物中C4和CYP21基因的组织与进化：基因组片段的重要性
Immunogenetics. 1993;37(3):170-6. doi: 10.1007/BF00191881.
9
HLA-B alleles and complotypes in Mexican patients with seronegative spondyloarthropathies.墨西哥血清阴性脊柱关节病患者的HLA - B等位基因及单倍型组合
Ann Rheum Dis. 1994 Nov;53(11):755-8. doi: 10.1136/ard.53.11.755.
10
Complement-human histocompatibility antigen haplotypes in C2 deficiency.C2缺乏症中的补体-人类组织相容性抗原单倍型
J Clin Invest. 1981 Feb;67(2):581-3. doi: 10.1172/JCI110070.
本文引用的文献
1
Inherited deficiency of the third component of human complement (C'3).人类补体第三成分（C'3）的遗传性缺乏。
J Clin Invest. 1969 Mar;48(3):553-7. doi: 10.1172/JCI106013.
2
Genetic polymorphism of the third component of human complement (C'3).人类补体第三成分（C'3）的基因多态性。
J Clin Invest. 1968 Sep;47(9):2181-91. doi: 10.1172/JCI105904.
3
Isoelectric focusing of human and guinea-pig C2: polymorphism of guinea-pig C2.人和豚鼠补体C2的等电聚焦：豚鼠补体C2的多态性
Immunology. 1970 Apr;18(4):467-72.
4
Evidence for linkage between HL-A histocompatibility genes and those involved in the synthesis of the second component of complement.HL-A组织相容性基因与补体第二成分合成相关基因之间存在连锁关系的证据。
J Exp Med. 1974 Oct 1;140(4):1108-11. doi: 10.1084/jem.140.4.1108.
5
Linkage of HL-A and GBG.HL-A与GBG的连锁关系。
Vox Sang. 1974;27(4):382-4. doi: 10.1111/j.1423-0410.1974.tb02433.x.
6
Genetic polymorphism of C'3(beta1C-globulin) in human serum.人血清中C'3（β1C球蛋白）的遗传多态性。
Science. 1968 Nov 22;162(3856):905-7. doi: 10.1126/science.162.3856.905.
7
Isoelectric focusing in polyacrylamide gel and its application to immunoglobulins.聚丙烯酰胺凝胶等电聚焦及其在免疫球蛋白中的应用。
Nature. 1968 Jul 6;219(5149):66-7. doi: 10.1038/219066a0.
8
Genetic polymorphism in human glycine-rich beta-glycoprotein.人类富含甘氨酸的β-糖蛋白中的基因多态性。
J Exp Med. 1972 Jan;135(1):68-80. doi: 10.1084/jem.135.1.68.
9
The Bf locus in the HLA region of chromosome 6: linkage and association studies.6号染色体HLA区域中的Bf基因座：连锁与关联研究
Humangenetik. 1975 Dec 23;30(4):291-6. doi: 10.1007/BF00275141.
10
Genetic linkage between the HL-A system and a deficit of the second component (C2) of complement.HL-A系统与补体第二成分（C2）缺陷之间的遗传连锁。
Science. 1975 Jun 6;188(4192):1020-2. doi: 10.1126/science.1145185.
Zotero 插件