Board P G, Coggan M, Hamer J W
Br J Haematol. 1980 Aug;45(4):633-40. doi: 10.1111/j.1365-2141.1980.tb07186.x.
Previous electrophoretic studies of the A and B subunits of factor XIII have revealed considerably genetic heterogeneity. The present work investigates the electrophoretic forms and quantitates the A and B subunits in a family with inherited factor XIII deficiency. The data indicate that the deficiency in this family is due to a null allele at the locus controlling the A subunit. All family members were found to have decreased levels of B subunit. The data also indicate that there is no difference in thrombin activated transamidase activity between normal individuals with the three commonly occurring electrophoretic phenotypes of the A subunit.
先前对因子XIII的A和B亚基进行的电泳研究显示出相当大的遗传异质性。本研究调查了一个遗传性因子XIII缺乏症家族中A和B亚基的电泳形式并对其进行定量分析。数据表明,该家族中的缺乏症是由于控制A亚基的基因座上的一个无效等位基因所致。发现所有家族成员的B亚基水平均降低。数据还表明,具有A亚基三种常见电泳表型的正常个体之间,凝血酶激活的转酰胺酶活性没有差异。