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通过将人凝血因子XII(fXII)的cDNA与体细胞杂种的DNA进行杂交,将其定位于5号染色体。

Assignment of human coagulation factor XII (fXII) to chromosome 5 by cDNA hybridization to DNA from somatic cell hybrids.

作者信息

Citarella F, Tripodi M, Fantoni A, Bernardi F, Romeo G, Rocchi M

机构信息

Dipartimento di Biopatologia Umana, Università di Roma, La Sapienza, Italy.

出版信息

Hum Genet. 1988 Dec;80(4):397-8. doi: 10.1007/BF00273661.

DOI:10.1007/BF00273661
PMID:3198120
Abstract

Human coagulation factor XII (fXII), a serine protease synthesized in liver and active in plasma, is involved in a wide variety of functions, including blood coagulation, fibrinolysis, bradykinin and complement activation. A complementary DNA (597 bp) encoding amino acid -16 to amino acid 183 of fXII protein was used to determine the chromosomal location of the fXII gene. DNAs from hamster-human somatic cell hybrids were digested with restriction enzymes and hybridized with the fXII cDNA. By the Southern method it was shown that restriction fragments able to hybridize to fXII cDNA are present only in DNA extracted from clones retaining human chromosome 5.

摘要

人凝血因子XII(fXII)是一种在肝脏中合成并在血浆中具有活性的丝氨酸蛋白酶,参与多种功能,包括血液凝固、纤维蛋白溶解、缓激肽和补体激活。一个编码fXII蛋白氨基酸-16至氨基酸183的互补DNA(597 bp)被用于确定fXII基因的染色体定位。用限制性内切酶消化仓鼠-人类体细胞杂种的DNA,并与fXII cDNA杂交。通过Southern方法表明,能够与fXII cDNA杂交的限制性片段仅存在于从保留人类5号染色体的克隆中提取的DNA中。

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Assignment of human coagulation factor XII (fXII) to chromosome 5 by cDNA hybridization to DNA from somatic cell hybrids.通过将人凝血因子XII(fXII)的cDNA与体细胞杂种的DNA进行杂交,将其定位于5号染色体。
Hum Genet. 1988 Dec;80(4):397-8. doi: 10.1007/BF00273661.
2
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引用本文的文献

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Factor XII: what does it contribute to our understanding of the physiology and pathophysiology of hemostasis & thrombosis.因子 XII:它对我们理解止血和血栓形成的生理学和病理生理学有何贡献。
Thromb Res. 2010 Mar;125(3):210-5. doi: 10.1016/j.thromres.2009.11.028.

本文引用的文献

1
Tentative localization of a Hageman (Factor XII) locus on 7q, probably the 7q35 band.哈格曼因子(凝血因子 XII)基因座初步定位于 7 号染色体长臂,可能位于 7q35 带。
Humangenetik. 1974;24(3):197-200. doi: 10.1007/BF00283584.
2
Characterization of human blood coagulation factor XII cDNA. Prediction of the primary structure of factor XII and the tertiary structure of beta-factor XIIa.人凝血因子XII cDNA的特性分析。因子XII一级结构及β-因子XIIa三级结构的预测。
J Biol Chem. 1985 Nov 5;260(25):13666-76.
3
cDNA sequence coding for human coagulation factor XII (Hageman).
编码人凝血因子XII(哈格曼因子)的cDNA序列。
Nucleic Acids Res. 1986 Apr 11;14(7):3146. doi: 10.1093/nar/14.7.3146.
4
Mapping through somatic cell hybrids and cDNA probes of protein C to chromosome 2, factor X to chromosome 13, and alpha 1-acid glycoprotein to chromosome 9.通过体细胞杂种和蛋白质C的cDNA探针将其定位到2号染色体,将因子X定位到13号染色体,将α1-酸性糖蛋白定位到9号染色体。
Hum Genet. 1986 Sep;74(1):30-3. doi: 10.1007/BF00278781.
5
Factor XII gene alteration in Hageman trait detected by TaqI restriction enzyme.用TaqI限制酶检测哈格曼特征中的凝血因子XII基因改变。
Blood. 1987 May;69(5):1421-4.
6
Detection of specific sequences among DNA fragments separated by gel electrophoresis.在通过凝胶电泳分离的DNA片段中检测特定序列。
J Mol Biol. 1975 Nov 5;98(3):503-17. doi: 10.1016/s0022-2836(75)80083-0.
7
Hageman (factor XII) locus on 7q?: report of a second case with del(7)q35 and normal factor XII level.位于7q的哈格曼(因子Ⅻ)基因座:1例伴有7号染色体长臂q35缺失且因子Ⅻ水平正常的病例报告。
Hum Genet. 1978 Dec 29;45(3):363-7. doi: 10.1007/BF00278736.