分析三个遗传性球形红细胞增多症墨西哥患者的 SLC4A1 基因：报告一种新的突变。
Analysis of the SLC4A1 gene in three Mexican patients with hereditary spherocytosis: Report of a novel mutation.
机构信息
División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco Mexico.
出版信息
Genet Mol Biol. 2010 Jan;33(1):9-11. doi: 10.1590/S1415-47572009005000109. Epub 2010 Mar 1.
Abstract
We analyzed the SLC4A1 gene in three Mexican patients with Hereditary Spherocytosis (HS). The promoter and all 20 exons were investigated through heteroduplex analysis and DNA sequencing. No DNA changes were detected in one of the three patients. Two well-known polymorphisms, Memphis I and the Diego-a blood group, were detected in another one. In the third, the HS phenotype could be explained by the novel 1885_1888dupCCGG mutation found in heterozygosis. This frameshift mutation is predicted to result in a truncated and unstable protein lacking normal functions.
摘要
我们分析了 3 名遗传性血红细胞增多症（HS）墨西哥患者的 SLC4A1 基因。通过异源双链分析和 DNA 测序研究了启动子和全部 20 个外显子。在 3 名患者中的 1 名中未检测到 DNA 变化。在另一名患者中检测到了两个众所周知的多态性，孟菲斯 I 和迭戈血型。在第 3 名患者中，HS 表型可由杂合子中发现的新型 1885_1888dupCCGG 突变解释。该移码突变预计导致截短和不稳定的蛋白，缺乏正常功能。
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