Pi系统的遗传学方面。
Genetic aspects of the Pi system.
作者信息
Cook P J
出版信息
Postgrad Med J. 1974 Jun;50(584):362-4. doi: 10.1136/pgmj.50.584.362.
Abstract
α-Antitrypsin can be shown to be polymorphic by starch gel electrophoresis. At present 19 different alleles are known which are inherited in an autosomal pattern and constitute the Pi system. In one phenotype called Pi type ZZ there is a virtual deficiency of plasma α-antitrypsin and about 230 such babies are expected in England and Wales every year.
摘要
通过淀粉凝胶电泳可显示α-抗胰蛋白酶具有多态性。目前已知有19种不同的等位基因，它们以常染色体模式遗传，构成了Pi系统。在一种名为Pi ZZ型的表型中，血浆α-抗胰蛋白酶实际上存在缺乏，在英格兰和威尔士每年预计约有230名这样的婴儿。
相似文献
1
Genetic aspects of the Pi system.Pi系统的遗传学方面。
Postgrad Med J. 1974 Jun;50(584):362-4. doi: 10.1136/pgmj.50.584.362.
2
Genetic polymorphism of serum alpha-1-protease inhibitor (alpha-1-antitrypsin): Pi i, a deficient allele of the Pi system.
J Lab Clin Med. 1978 Aug;92(2):177-84.
3
4
Human alpha 1-antitrypsin genetic polymorphism: PI N subtypes.人类α1-抗胰蛋白酶基因多态性：PI N亚型
Hum Hered. 1984;34(2):105-13. doi: 10.1159/000153444.
5
alpha 1-antitrypsin phenotype and gene distribution in Southern Italy.
Hum Hered. 1981;31(3):180-2. doi: 10.1159/000153202.
6
Genetic typing of alpha1-antitrypsin by immunofixation electrophoresis, identification of subtypes of Pi M.通过免疫固定电泳对α1-抗胰蛋白酶进行基因分型，鉴定Pi M亚型
J Lab Clin Med. 1976 Jan;87(1):152-63.
7
PI*E Tripoli: a new allele in the alpha-1-antitrypsin system.PI*E的黎波里：α-1-抗胰蛋白酶系统中的一个新等位基因。
Hum Hered. 1992;42(3):206-8. doi: 10.1159/000154070.
8
Antitrypsin and the liver.抗胰蛋白酶与肝脏
Gut. 1974 Jul;15(7):573-80. doi: 10.1136/gut.15.7.573.
9
10
[Pi-system. IV. Evaluation of electrophoretic polymorphism in the most frequent phenotypes in alpha 1 antitrypsin].[π-系统。IV. α1抗胰蛋白酶最常见表型的电泳多态性评估]
Cesk Pediatr. 1975 Aug;30(7-8):387-90.
引用本文的文献
1
Alpha-1 antitrypsin deficiency alleles and severe cystic fibrosis lung disease.α-1抗胰蛋白酶缺乏等位基因与严重囊性纤维化肺病
Thorax. 1998 Dec;53(12):1022-4. doi: 10.1136/thx.53.12.1022.
2
Alpha 1-antitrypsin deficiency and chronic pancreatitis.α1-抗胰蛋白酶缺乏症与慢性胰腺炎
Dig Dis Sci. 1995 Sep;40(9):1997-2001. doi: 10.1007/BF02208669.
3
An excess of the Pi S allele in dizygotic twins and their mothers.在异卵双胞胎及其母亲中，Pi S等位基因过量。
Hum Genet. 1982;61(2):171-4. doi: 10.1007/BF00274213.
4
Alpha 1 antitrypsin deficiency due to MMaltonZ phenotype: case report and family study.因MMaltonZ表型导致的α1抗胰蛋白酶缺乏症：病例报告及家系研究
Thorax. 1986 Jul;41(7):568-70. doi: 10.1136/thx.41.7.568.
5
Homozygous and heterozygous alpha-1-antitrypsin deficiency: prevalence in pulmonary emphysema.纯合子和杂合子α-1抗胰蛋白酶缺乏症：在肺气肿中的患病率。
Proc R Soc Med. 1976 Feb;69(2):130-1. doi: 10.1177/003591577606900220.
6
Adult alpha1-antitrypsin deficiency.成人α1-抗胰蛋白酶缺乏症。
J Clin Pathol. 1975 Aug;28(8):613-9. doi: 10.1136/jcp.28.8.613.
7
Pediatric gastroenterology 1/1/69-12/31/75: a review. Part II. The liver and biliary tract.小儿胃肠病学1969年1月1日至1975年12月31日：综述。第二部分。肝脏和胆道。
Am J Dig Dis. 1977 Feb;22(2):155-67. doi: 10.1007/BF01072961.
8
Relation of alpha-1-antitrypsin phenotype to the performance of pulmonary function tests and to the prevalence of respiratory illness in a working population.α-1抗胰蛋白酶表型与工作人群肺功能测试表现及呼吸道疾病患病率的关系。
Thorax. 1976 Apr;31(2):149-57. doi: 10.1136/thx.31.2.149.
9
Lung distensibility and airway function in intermediate alpha 1-antitrypsin deficiency (Pi MZ).中间型α1-抗胰蛋白酶缺乏症（Pi MZ）患者的肺扩张性和气道功能
Thorax. 1979 Oct;34(5):637-46. doi: 10.1136/thx.34.5.637.
10
Alpha1-antitrypsin bodies, PiZ phenotype, and peptic ulcer.α1-抗胰蛋白酶体、PiZ表型与消化性溃疡
Gut. 1978 Feb;19(2):157-8. doi: 10.1136/gut.19.2.157.
本文引用的文献
1
Serum prealbumin: polymorphism in man.
Science. 1965 Aug 27;149(3687):986-7. doi: 10.1126/science.149.3687.986.
2
Autosomal linkage between the Gm and Pi loci in man.人类中Gm和Pi基因座之间的常染色体连锁
Ann Hum Genet. 1972 Apr;35(4):393-9.
3
Alpha-1-antitrypsin deficiency and pulmonary emphysema: the role of proteolytic enzymes and their inhibitors.α-1抗胰蛋白酶缺乏症与肺气肿：蛋白水解酶及其抑制剂的作用
Br J Dis Chest. 1973 Jul;67(3):171-96. doi: 10.1016/0007-0971(73)90053-3.
Zotero 插件