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Genetic studies of complement C4 in man.

作者信息

Petersen G B, Sørensen I J, Buskjaer L, Lamm L U

出版信息

Hum Genet. 1979;53(1):31-6. doi: 10.1007/BF00289447.

DOI:10.1007/BF00289447
PMID:535900
Abstract

A C4 variant found in about 5% of the population is described. The fast-moving part of this variant is governed by an allele (Fx) codominant to F. The Fx allele is in very strong linkage disequilibrium with HLA-B17 as the linkage disequilibrium parameter accounted for nearly 100% of the haplotype frequency of B17,Fx. The strong association is also evidenced by the study of 11 families segregating for the Fx allele. There was no instance of recombination between C4 and HLA in 36 informative meioses.

摘要

相似文献

1
Genetic studies of complement C4 in man.
Hum Genet. 1979;53(1):31-6. doi: 10.1007/BF00289447.
2
Different HLA antigen associations for the functionally active and inactive products of the complement C4F1 allele.补体C4F1等位基因的功能活性和非活性产物存在不同的HLA抗原关联。
Hum Immunol. 1980 Jul;1(1):23-30. doi: 10.1016/0198-8859(80)90006-3.
3
Family studies of complement C4 and HLA in man.人类补体C4和HLA的家系研究。
Hum Genet. 1981;58(3):260-7. doi: 10.1007/BF00294919.
4
Analysis of active and inactive complement C4 complotypes associated with subtypes of HLA-B17 in different racial groups.不同种族群体中与HLA - B17亚型相关的活性和非活性补体C4复合类型分析。
Am J Hum Genet. 1983 Mar;35(2):309-17.
5
HLA A*, B*-BF* and C4 A*, B* allele associations, with special reference to BF*S07, in the Tunisian population.
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6
Haplotype analysis of the linkage group HLA-A:HLA-B:C4 in Japanese: evidence for the C4 locus being between the HLA-A and HLA-B loci.日本人中HLA-A:HLA-B:C4连锁群的单倍型分析：C4基因座位于HLA-A和HLA-B基因座之间的证据。
Jinrui Idengaku Zasshi. 1980 Mar;25(1):9-14. doi: 10.1007/BF01876540.
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Association of low C2 and C4 serum levels with the HLA-DW2 allele in healthy individuals.健康个体中低血清C2和C4水平与HLA - DW2等位基因的关联。
J Exp Med. 1978 Sep 1;148(3):704-13. doi: 10.1084/jem.148.3.704.
8
Studies of HLA, factor B (Bf), complement C2 and C4 haplotypes in type 1 diabetic and control families from northern Sweden.瑞典北部1型糖尿病患者家庭及对照家庭的人类白细胞抗原（HLA）、B因子（Bf）、补体C2和C4单倍型研究。
Hum Hered. 1986;36(4):201-12. doi: 10.1159/000153627.
9
DNA polymorphism of human HLA-linked complement C4 allotypes, including C4 null alleles, in the Finnish population.芬兰人群中人类HLA连锁补体C4同种异型包括C4无效等位基因的DNA多态性。
Hum Hered. 1987;37(4):241-9. doi: 10.1159/000153711.
10
C4 polymorphism and HLA linkage: studies in a family with hereditary C4 deficiency.C4多态性与HLA连锁：对一个遗传性C4缺乏症家族的研究
Clin Immunol Immunopathol. 1981 Sep;20(3):354-60. doi: 10.1016/0090-1229(81)90146-x.

引用本文的文献

1
Family studies of complement C4 and HLA in man.人类补体C4和HLA的家系研究。
Hum Genet. 1981;58(3):260-7. doi: 10.1007/BF00294919.
2
Analysis of active and inactive complement C4 complotypes associated with subtypes of HLA-B17 in different racial groups.不同种族群体中与HLA - B17亚型相关的活性和非活性补体C4复合类型分析。
Am J Hum Genet. 1983 Mar;35(2):309-17.
3
Human C4 polymorphism: pedigree analysis of qualitative, quantitative, and functional parameters as a basis for phenotype interpretations.人类C4多态性：定性、定量和功能参数的系谱分析作为表型解释的基础。

本文引用的文献

1
Structural polymorphism of the fourth component of human complement.人类补体第四成分的结构多态性
J Clin Invest. 1969 Dec;48(12):2283-92. doi: 10.1172/JCI106194.
2
Electrophoretic polymorphism of the fourth component of human complement (C4) in paired maternal and foetal plasmas.人补体第四成分（C4）在母体和胎儿血浆中的电泳多态性
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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。
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J Exp Med. 1972 Jan;135(1):68-80. doi: 10.1084/jem.135.1.68.
4
Genetic polymorphism of C4 in man and localisation of a structural C4 locus to the HLA gene complex of chromosome 6.人类C4的遗传多态性以及结构C4基因座在6号染色体HLA基因复合体上的定位。
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5
The genetic polymorphism of the fourth component of human complement: methodological aspects and a presentation of linkage and association data relevant to its localization in the HLA region.人类补体第四成分的遗传多态性：方法学方面以及与其在HLA区域定位相关的连锁和关联数据介绍。
J Exp Med. 1977 Nov 1;146(5):1380-9. doi: 10.1084/jem.146.5.1380.
6
Genetic polymorphism of the fourth component of human complement.人类补体第四成分的基因多态性
Vox Sang. 1978;34(5):296-301. doi: 10.1111/j.1423-0410.1978.tb02485.x.
7
Two HLA-linked loci controlling the fourth component of human complement.控制人类补体第四成分的两个与HLA连锁的基因座。
Proc Natl Acad Sci U S A. 1978 Oct;75(10):5165-9. doi: 10.1073/pnas.75.10.5165.
8
Linkage between the gene (or genes) controlling synthesis of the fourth component of complement and the major histocompatibility complex.控制补体第四成分合成的基因与主要组织相容性复合体之间的连锁关系。
N Engl J Med. 1977 Mar 3;296(9):470-5. doi: 10.1056/NEJM197703032960902.
9
Chido and Rodgers blood groups are distinct antigenic components of human complement C4.奇多血型和罗杰斯血型是人类补体C4的不同抗原成分。
Nature. 1978 Jun 22;273(5664):668-70. doi: 10.1038/273668a0.
10
On the mapping of PGM3, GLO and HLA.
Tissue Antigens. 1978 Feb;11(2):132-8. doi: 10.1111/j.1399-0039.1978.tb01237.x.