Ratzmann K P, Geserick G, Schimke E, Schröder H
Center of Diabetes and Metabolic Disorders, Berlin, GDR.
Exp Clin Endocrinol. 1988 Dec;92(2):177-81. doi: 10.1055/s-0029-1210798.
In this study 148 type 1 diabetic patients (mean age: 33 years) and 100 type 2 diabetic patients (mean age: 57.3 years) were typed for BF subtypes by means of isoelectrofocusing in polyacrylamide gel (pH range 5.0-8.0) according to Geserick. The frequencies of BF subtypes and the distribution patterns were compared with 584 blood donors. In type 1 diabetics the distribution pattern of BF phenotype frequencies differs significantly from the data of type 2 diabetics and controls. The difference is mainly due to the frequent occurrence of the rare alleles BFF1 and BFSO7. The frequency of the two alleles amounted to 0.0338 and 0.0270, respectively. The relative risk of carriers of the rare alleles BFF1 and BFSO7 was 5.3 and 6.6, respectively. The study demonstrates a marked association between the early onset of type 1 diabetes (less than 20 years of age) and the BFF1 allele. There is no relationship between the rare variants of alleles of the BF system and the occurrence of proliferative retinopathy. However, there was no association between the rare variants of alleles of the BF system and type 2 diabetes mellitus. In summary, the study add further support for genetic heterogeneity of the BF system in type 1 diabetes mellitus.
在本研究中，根据格泽里克的方法，采用聚丙烯酰胺凝胶等电聚焦法（pH范围5.0 - 8.0）对148例1型糖尿病患者（平均年龄：33岁）和100例2型糖尿病患者（平均年龄：57.3岁）进行BF亚型分型。将BF亚型的频率和分布模式与584名献血者进行比较。在1型糖尿病患者中，BF表型频率的分布模式与2型糖尿病患者及对照组的数据有显著差异。这种差异主要是由于罕见等位基因BFF1和BFSO7的频繁出现。这两个等位基因的频率分别为0.0338和0.0270。罕见等位基因BFF1和BFSO7携带者的相对风险分别为5.3和6.6。该研究表明1型糖尿病（小于20岁）的早发与BFF1等位基因之间存在显著关联。BF系统等位基因的罕见变异与增殖性视网膜病变的发生之间没有关系。然而，BF系统等位基因的罕见变异与2型糖尿病之间没有关联。总之，该研究进一步支持了1型糖尿病中BF系统的遗传异质性。
