Detection of large deletions in the LDL receptor gene with quantitative PCR methods
Detection of large deletions in the LDL receptor gene with quantitative PCR methods
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DOI：
10.1186/1471-2350-6-15
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发表时间：
2005-04-20
影响因子：
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通讯作者：
Faergeman, O
中科院分区：
文献类型：
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作者：
Damgaard, D;Nissen, PH;Faergeman, O
背景资料：家族性高胆固醇血症（FH）是一种常见的遗传性疾病，在分子水平上最常见的是由于LDL受体基因突变。在遗传异质性人群中，主要结构重排约占5%的患者LDL受体基因mutation.Methods：在这项研究中，我们测试了两种不同的定量PCR方法，即实时PCR和多重连接依赖性探针扩增（MLPA），检测LDL受体基因缺失的能力。我们还重新评估了贡献的主要结构重排的突变谱的LDL受体基因在丹麦。结果：用这两种方法，它是可能区分一个和两个拷贝的LDL受体基因外显子5，但MLPA方法更便宜，它是更准确和精确的比实时PCR。在5的318例FH表型，MLPA分析揭示了五个不同的缺失在LDL受体gene.Conclusion：MLPA方法是准确的，精确的，同时有效地筛选大量的FH患者的大缺失在LDL受体基因。
Background: Familial Hypercholesterolemia (FH) is a common genetic disease and at the molecular level most often due to mutations in the LDL receptor gene. In genetically heterogeneous populations, major structural rearrangements account for about 5% of patients with LDL receptor gene mutations.Methods: In this study we tested the ability of two different quantitative PCR methods, i.e. Real-Time PCR and Multiplex Ligation-Dependent Probe Amplification (MLPA), to detect deletions in the LDL receptor gene. We also reassessed the contribution of major structural rearrangements to the mutational spectrum of the LDL receptor gene in Denmark.Results: With both methods it was possible to discriminate between one and two copies of the LDL receptor gene exon 5, but the MLPA method was cheaper, and it was far more accurate and precise than Real-Time PCR. In five of 318 patients with an FH phenotype, MLPA analysis revealed five different deletions in the LDL receptor gene.Conclusion: The MLPA method was accurate, precise and at the same time effective in screening a large number of FH patients for large deletions in the LDL receptor gene.