Costa Edutainment spa, Acquario di Genova, Area Porto Antico, Ponte Spinola, 16128, Genoa, Italy.
Department of Comparative Biomedicine and Food Science, University of Padua, AGRIPOLIS - Viale dell'Università 16, 35020, Agripolis, Legnaro, PD, Italy.
BMC Vet Res. 2016 Aug 20;12(1):172. doi: 10.1186/s12917-016-0801-x.
Hereditary bisalbuminemia is a relatively rare anomaly characterized by the occurrence of two albumin fractions on serum protein separation by electrophoresis. In human medicine, it is usually revealed by chance, is not been clearly associated with a specific disease and the causative genetic alteration is a point mutation of human serum albumin gene inherited in an autosomal codominant pattern. This type of alteration is well recognizable by capillary zone electrophoresis (CZE), whilst agarose gel electrophoresis (AGE) not always produces a clear separation of albumin fractions. The aims of this study is to report the presence of this abnormality in two separate groups of related bottlenose dolphins and to compare the results obtained with capillary zone and agarose gel electrophoresis.
Serum samples from 40 bottlenose dolphins kept under human care were analyzed. In 9 samples a double albumin peak was evident in CZE electrophoresis while no double peak was noted in AGE profile. Since only an apparently wider albumin peaks were noted in some AGE electrophoretic profiles, the ratio between base and height (b/h) of the albumin peak was calculated and each point-value recorded in the whole set of data was used to calculate a receiver operating characteristic curve: when the b/h ratio of albumin peak was equal or higher than 0.25, the sensitivity and specificity of AGE to detect bisalbuminemic samples were 87 and 63 %, respectively. The bisalbuminemic dolphins belong to two distinct families: in the first family, all the siblings derived from the same normal sire were bisalbuminemic, whereas in the second family bisalbuminemia was present in a sire and in two out of three siblings.
We report for the first time the presence of hereditary bisalbuminemia in two groups of related bottlenose dolphins identified by means of CZE and we confirm that AGE could fail in the identification of this alteration.
遗传性双白蛋白血症是一种相对罕见的异常，其特征是在血清蛋白电泳分离时出现两种白蛋白馏分。在人类医学中，它通常是偶然发现的，与特定疾病没有明确关联，致病的遗传改变是常染色体共显性遗传的人血清白蛋白基因突变。这种类型的改变可以很好地通过毛细管区带电泳（CZE）识别，而琼脂糖凝胶电泳（AGE）并不总是能清晰地分离白蛋白馏分。本研究的目的是报告在两组不同的相关宽吻海豚中存在这种异常，并比较毛细管区带电泳和琼脂糖凝胶电泳的结果。
分析了 40 头在人类照料下的宽吻海豚的血清样本。在 9 个样本中，CZE 电泳中可见双白蛋白峰，而 AGE 图谱中未见双峰。由于仅在一些 AGE 电泳图谱中注意到明显较宽的白蛋白峰，因此计算了白蛋白峰的基底与高度（b/h）比值，并将整个数据集的每个点值用于计算接收者操作特征曲线：当白蛋白峰的 b/h 比值等于或高于 0.25 时，AGE 检测双白蛋白血症样本的灵敏度和特异性分别为 87%和 63%。双白蛋白血症海豚属于两个不同的家族：在第一个家族中，所有来自同一正常父系的兄弟姐妹都是双白蛋白血症，而在第二个家族中，父系和三个兄弟姐妹中的两个都是双白蛋白血症。
我们首次报道了在两组通过 CZE 鉴定的相关宽吻海豚中存在遗传性双白蛋白血症，并证实 AGE 可能无法识别这种改变。
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