Li L, Kikuchi S, Arinami T, Kobayashi K, Tsuchiya S, Hamaguchi H
Department of Medical Genetics, University of Tsukuba, Japan.
Clin Genet. 1994 Jun;45(6):285-7. doi: 10.1111/j.1399-0004.1994.tb04031.x.
A functionally inactive plasminogen (PLG) variant, PLG M5, is polymorphic in the Japanese population and has a codon 601 mis-sense mutation (GCT for Ala to ACT for Thr), designated type-I mutation. The present study aimed to reveal whether the plasminogen with type-I mutation is present in the Chinese Han population. Among 104 healthy Chinese students, phenotype PLG AM5 was found in three subjects (2.9%), while 100 subjects were phenotype A and one was phenotype AA3. In the three subjects with PLG AM5, plasma concentrations of immunoreactive PLG were normal but PLG activities were decreased. Analysis using PCR and dot-blot hybridization with allele-specific oligonucleotide probes revealed the presence of the type-I mutation in the PLG gene of all three subjects with PLG AM5. The data indicate that PLG with type-I mutation is present in the Chinese Han population, possibly at a polymorphic frequency.
一种功能失活的纤溶酶原（PLG）变体PLG M5在日本人群中具有多态性，并且有一个601密码子错义突变（丙氨酸的GCT突变为苏氨酸的ACT），称为I型突变。本研究旨在揭示具有I型突变的纤溶酶原是否存在于中国汉族人群中。在104名健康的中国学生中，发现3名受试者（2.9%）为PLG AM5表型，100名受试者为A表型，1名受试者为AA3表型。在3名具有PLG AM5的受试者中，免疫反应性PLG的血浆浓度正常，但PLG活性降低。使用聚合酶链反应（PCR）和等位基因特异性寡核苷酸探针进行斑点杂交分析发现，所有3名具有PLG AM5的受试者的PLG基因中均存在I型突变。数据表明，具有I型突变的PLG存在于中国汉族人群中，可能具有多态性频率。
