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日本人群中凝血因子XIII B亚基的基因多态性:三种新的罕见等位基因的描述

Genetic polymorphism of coagulation factor XIII B subunit in the Japanese population: description of three new rare alleles.

作者信息

Nakamura S, Ohue O, Abe K

出版信息

Hum Genet. 1986 Jun;73(2):183-5. doi: 10.1007/BF00291612.

Abstract

Polyacrylamide gel isoelectric focusing (PAGIEF) of neuraminidase-treated EDTA plasma samples followed by electroblotting with enzyme immunoassay was performed to further investigate coagulation factor XIII B subunit (FXIII B) polymorphism. In 435 Japanese subjects PAGIEF patterns of FXIII B were classified into five common and three rare allotypes. This suggested that the FXIII B2 allele existed in the Japanese population in the same manner as in Caucasians. Three new rare allotypes were considered to be controlled by three rare alleles which were designated FXIII B13, FXIII B14, and FXIII B15, respectively. The gene frequencies calculated from 435 Japanese subjects were FXIII B1 = 0.2977, FXIII B2 = 0.0184, FXIII B3 = 0.6805, FXIII B13 = 0.0011, FXIII B14 = 0.0011, and FXIII B15 = 0.0011, respectively.

摘要

对经神经氨酸酶处理的乙二胺四乙酸(EDTA)血浆样本进行聚丙烯酰胺凝胶等电聚焦(PAGIEF),随后进行酶免疫测定的电印迹,以进一步研究凝血因子XIII B亚基(FXIII B)的多态性。在435名日本受试者中,FXIII B的PAGIEF模式被分为五种常见和三种罕见的同种异型。这表明FXIII B2等位基因在日本人群中的存在方式与高加索人群相同。三种新的罕见同种异型被认为由分别命名为FXIII B13、FXIII B14和FXIII B15的三个罕见等位基因控制。从435名日本受试者计算出的基因频率分别为FXIII B1 = 0.2977、FXIII B2 = 0.0184、FXIII B3 = 0.6805、FXIII B13 = 0.0011、FXIII B14 = 0.0011和FXIII B15 = 0.0011。

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