Bogusławska Dzamila M, Heger Elzbieta, Baldy-Chudzik Katarzyna, Zagulski Marek, Maciejewska Marta, Likwiarz Anna, Sikorski Aleksander F
Ann Hematol. 2006 May;85(5):337-9. doi: 10.1007/s00277-006-0083-7. Epub 2006 Mar 4.
Defects in ankyrin-1 have been implicated in approximately half of all patients with hereditary spherocytosis. However, not all polymorphisms in this gene lead to the changes in expressed protein or to the changes of the level of its expression. In this study, we report on several cases of the (AC)n microsatellite polymorphism in 3' untranslated region of ANK1 gene found in nine families (19 patients) with hereditary spherocytosis (HS) and also in ten healthy individuals from the same territory. We also found that 14-nucleotide deletion in this region of ANK1 which was shifted by five nucleotides in relation to another 14-nucleotide deletion listed in Single Nucleotide Polymorphism National Center for Biotechnology Information (SNP NCBI) database. This deletion seems to be present only in individuals with 11/14 and 13/14 AC repeats what would be an interesting correlation between these two features. However, comparison of the data obtained for HS patients and healthy individuals indicates that both polymorphisms are not connected to the pathology of hereditary spherocytosis.
遗传性球形红细胞增多症患者中约有一半存在锚蛋白-1缺陷。然而，该基因的并非所有多态性都会导致表达蛋白的变化或其表达水平的改变。在本研究中，我们报告了在9个遗传性球形红细胞增多症（HS）家族（19名患者）以及来自同一地区的10名健康个体中发现的ANK1基因3'非翻译区(AC)n微卫星多态性的几例情况。我们还发现ANK1基因该区域存在14个核苷酸的缺失，相对于美国国立生物技术信息中心单核苷酸多态性数据库（SNP NCBI）中列出的另一个14个核苷酸的缺失，其位置偏移了5个核苷酸。这种缺失似乎仅存在于具有11/14和13/14 AC重复序列的个体中，这两个特征之间可能存在有趣的相关性。然而，对HS患者和健康个体所得数据的比较表明，这两种多态性均与遗传性球形红细胞增多症的病理无关。
