鉴定法布里病患者的α-半乳糖苷酶 A 基因突变。
Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease.
机构信息
Institute of Biomedicine and Molecular Immunology A. Monroy, National Research Council, Palermo, Italy.
出版信息
Clin Biochem. 2012 Jul;45(10-11):839-41. doi: 10.1016/j.clinbiochem.2012.03.015. Epub 2012 Mar 19.
OBJECTIVES
Mutation analysis of the alpha-galactosidase A (GLA) gene is a valuable tool for the diagnosis of affected families. In our work, we analyze about one thousand samples per year from patients suspected of having Fabry disease (FD).
DESIGN AND METHODS
We carried out high resolution melting analysis (HRM) and DNA sequencing of all the exons of the GLA gene. We also assayed the alpha-galactosidase A activity in patients' blood.
RESULTS
In some members of one family, we identified a new mutation in the GLA gene, c.614delC. This is a deletion of a single nucleotide, a cytosine, in exon 4 of the gene which causes a frameshift mutation.
CONCLUSIONS
Patients with the c.614delC mutation show classical clinical manifestations of FD, and the male patient has no alpha-galactosidase A activity. These data suggest that c.614delC is a novel mutation associated with FD.
目的
α-半乳糖苷酶 A（GLA）基因突变分析是诊断受累家系的有效工具。在我们的工作中，每年对约一千名疑似法布里病（FD）患者的样本进行分析。
设计与方法
我们对 GLA 基因的所有外显子进行高分辨率熔解分析（HRM）和 DNA 测序。我们还检测了患者血液中的α-半乳糖苷酶 A 活性。
结果
在一个家系的一些成员中，我们在 GLA 基因中发现了一个新的突变，c.614delC。这是基因外显子 4 中一个核苷酸，即胞嘧啶的缺失，导致移码突变。
结论
携带 c.614delC 突变的患者表现出典型的 FD 临床表现，且男性患者无α-半乳糖苷酶 A 活性。这些数据提示 c.614delC 是与 FD 相关的一种新突变。
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