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家族性缺陷中人类补体成分C7基因的DNA多态性

DNA polymorphism of the human complement component C7 gene in familial deficiencies.

作者信息

Coto E, Martínez-Naves E, Domínguez O, López-Larrea C

机构信息

Servicio de Inmunología, Hospital Covadonga, Oviedo, Spain.

出版信息

Hum Genet. 1990 Jul;85(2):251-2. doi: 10.1007/BF00193207.

DOI:10.1007/BF00193207
PMID:1973405
Abstract

A C7 cDNA probe detecting a TaqI restriction fragment length polymorphism has been used to examine the segregation of the "silent allele" (C7Q0) in two familial deficiencies. Carrier diagnosis in healthy children is possible when both parents are heterozygotes. Only one of these two families was informative. The "silent allele" is linked to different TaqI alleles in both families. This suggests that at least two different C7Q0 alleles are present in our population. This paper gives a protocol for genetic studies of hereditary traits in which the C7 gene and other genes tightly linked to it are involved.

摘要

一种检测TaqI限制性片段长度多态性的C7 cDNA探针已被用于检测两个家族性缺陷中“沉默等位基因”(C7Q0)的分离情况。当父母双方均为杂合子时,有可能对健康儿童进行携带者诊断。这两个家族中只有一个家族提供了有用信息。在这两个家族中,“沉默等位基因”与不同的TaqI等位基因连锁。这表明在我们的人群中至少存在两种不同的C7Q0等位基因。本文给出了一个涉及C7基因及其紧密连锁的其他基因的遗传性状基因研究方案。

相似文献

1
DNA polymorphism of the human complement component C7 gene in familial deficiencies.家族性缺陷中人类补体成分C7基因的DNA多态性
Hum Genet. 1990 Jul;85(2):251-2. doi: 10.1007/BF00193207.
2
Genetic detection of the silent allele (*Q0) in hereditary deficiencies of the human complement C6, C7, and C9 components.人类补体C6、C7和C9成分遗传性缺陷中沉默等位基因(*Q0)的基因检测。
Am J Med Genet. 1995 Feb 13;55(4):408-13. doi: 10.1002/ajmg.1320550405.
3
Three Japanese families with members carrying C7 silent allele (C7*Q0). Possibility for an association between C7*Q0 and C6*B.
Hum Hered. 1988;38(4):246-50. doi: 10.1159/000153792.
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C7 M/N protein polymorphism typing applied to inherited deficiencies of human complement proteins C6 and C7.应用于人类补体蛋白C6和C7遗传性缺陷的C7 M/N蛋白多态性分型
Clin Exp Immunol. 1992 Sep;89(3):485-9. doi: 10.1111/j.1365-2249.1992.tb06985.x.
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Complement component C6 and C7 haplotypes associated with deficiencies of C6.与C6缺乏相关的补体成分C6和C7单倍型。
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Study of genetic polymorphism of seventh complement component in two families with hereditary deficit.
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DNA polymorphisms of the complement C6 and C7 genes.补体C6和C7基因的DNA多态性
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The genetics of the sixth and seventh components of complement in the dog: polymorphism, linkage, locus duplication, and silent alleles.犬补体第六和第七成分的遗传学:多态性、连锁、基因座重复及沉默等位基因
Biochem Genet. 1983 Feb;21(1-2):81-91. doi: 10.1007/BF02395393.

引用本文的文献

1
A physical map of the human complement component C6, C7, and C9 genes.人类补体成分C6、C7和C9基因的物理图谱。
Immunogenetics. 1993;38(5):341-4. doi: 10.1007/BF00210475.
2
Infectious diseases associated with complement deficiencies.与补体缺陷相关的传染病。
Clin Microbiol Rev. 1991 Jul;4(3):359-95. doi: 10.1128/CMR.4.3.359.
3
DNA polymorphisms and linkage relationship of the human complement component C6, C7, and C9 genes.人类补体成分C6、C7和C9基因的DNA多态性及连锁关系

本文引用的文献

1
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.一种将DNA限制性内切酶片段放射性标记至高比活度的技术。
Anal Biochem. 1983 Jul 1;132(1):6-13. doi: 10.1016/0003-2697(83)90418-9.
2
Family study on the polymorphisms of the sixth and seventh components (C6 and C7) of human complement: linkage and haplotype analyses.人类补体第六和第七成分(C6和C7)多态性的家系研究:连锁和单倍型分析。
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A simple salting out procedure for extracting DNA from human nucleated cells.
Immunogenetics. 1991;33(3):184-7. doi: 10.1007/BF01719238.
4
C7 M/N protein polymorphism typing applied to inherited deficiencies of human complement proteins C6 and C7.应用于人类补体蛋白C6和C7遗传性缺陷的C7 M/N蛋白多态性分型
Clin Exp Immunol. 1992 Sep;89(3):485-9. doi: 10.1111/j.1365-2249.1992.tb06985.x.
一种从人有核细胞中提取DNA的简单盐析方法。
Nucleic Acids Res. 1988 Feb 11;16(3):1215. doi: 10.1093/nar/16.3.1215.
4
The structure of human complement component C7 and the C5b-7 complex.人类补体成分C7及C5b-7复合物的结构。
J Biol Chem. 1988 Jan 5;263(1):549-60.
5
Three Japanese families with members carrying C7 silent allele (C7*Q0). Possibility for an association between C7*Q0 and C6*B.
Hum Hered. 1988;38(4):246-50. doi: 10.1159/000153792.