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腹主动脉瘤患者的α1-抗胰蛋白酶表型

Alpha 1-antitrypsin phenotypes in patients with abdominal aortic aneurysms.

作者信息

Cohen J R, Sarfati I, Ratner L, Tilson D

机构信息

Department of Surgery, Long Island Jewish Medical Center, New Hyde Park, New York 11042.

出版信息

J Surg Res. 1990 Oct;49(4):319-21. doi: 10.1016/0022-4804(90)90029-2.

DOI:10.1016/0022-4804(90)90029-2
PMID:2214739
Abstract

The alpha 1-antitrypsin phenotypes were determined in 47 patients with abdominal aortic aneurysms. The MM phenotype was present in 85%, the MS phenotype in 4%, the MZ phenotype in 11%, and the ZZ phenotype not present in any patients. The MZ phenotype occurred significantly more often in patients with aneurysms than would be expected in the general population. The current data would support a genetic mechanism of either autosomal-dominant or multifactorial influences but not an X-linked mechanism for families with a history of abdominal aortic aneurysms.

摘要

对47例腹主动脉瘤患者进行了α1-抗胰蛋白酶表型测定。MM表型占85%,MS表型占4%,MZ表型占11%,未发现ZZ表型患者。与一般人群预期相比,MZ表型在动脉瘤患者中出现的频率显著更高。目前的数据支持常染色体显性或多因素影响的遗传机制,但不支持有腹主动脉瘤家族史的家庭存在X连锁机制。

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Relationship Between α-Antitrypsin Deficiency and Ascending Aortic Distention.α-抗胰蛋白酶缺乏与升主动脉扩张之间的关系。
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Yonsei Med J. 2015 Jan;56(1):38-44. doi: 10.3349/ymj.2015.56.1.38.
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Dilatation of the ascending aorta and serum alpha 1-antitrypsin level in patients with bicuspid aortic valve.二叶式主动脉瓣患者升主动脉扩张与血清α1-抗胰蛋白酶水平
Heart Vessels. 2012 Jul;27(4):391-7. doi: 10.1007/s00380-011-0161-1. Epub 2011 Jun 23.
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Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms.对50名无亲缘关系患者的cDNA进行测序后发现,III型前胶原三螺旋结构域的突变是主动脉瘤的罕见病因。
J Clin Invest. 1993 Jun;91(6):2539-45. doi: 10.1172/JCI116490.
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