High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.
High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.
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DOI：
10.1186/1471-2350-13-17
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发表时间：
2012-03-19
影响因子：
--
通讯作者：
Fernandes AR
中科院分区：
文献类型：
--
作者：
Santos S;Marques V;Pires M;Silveira L;Oliveira H;Lança V;Brito D;Madeira H;Esteves JF;Freitas A;Carreira IM;Gaspar IM;Monteiro C;Fernandes AR
肥厚性心肌病（HCM）是一种复杂的心肌疾病，具有公认的遗传异质性。HCM中涉及的基因和突变数量的增加限制了基于基因的诊断，这对于基础研究和临床医学来说是最重要的。在本报告中，我们通过分析28个HCM相关基因，包括最常见的4个HCM相关肌瘤基因，以及24个HCM表型相关性较低的基因，评估了HCM基因检测的高分辨率熔化（HRM）鲁棒性。我们分析了80名具有HCM临床表型的葡萄牙人，同时可以更好地表征葡萄牙人群中的这种疾病。HRM技术使我们在72例HCM患者中鉴定出60个突变等位基因：49个错义突变，3个无义突变，1个1-bp缺失，1个5-bp缺失，1个框内3-bp缺失，1个插入/缺失，3个剪接突变，1个5'UTR突变，涉及MYH7、MYBPC3、TNNT2、TNNI3、CSRP3、MYH6和MYL2基因。值得注意的是新的基因突变。HRM被证明是一种高灵敏度和低假阳性率的技术，可以快速、创新和低成本地对HCM进行基因分型。在短期内，HRM作为一种基因扫描技术可能是一种经济有效的基于基因的诊断，用于准确的HCM基因诊断，并有望为基因型/表型相关性提供新的见解。
Hypertrophic Cardiomyopathy (HCM) is a complex myocardial disorder with a recognized genetic heterogeneity. The elevated number of genes and mutations involved in HCM limits a gene-based diagnosis that should be considered of most importance for basic research and clinical medicine. In this report, we evaluated High Resolution Melting (HRM) robustness, regarding HCM genetic testing, by means of analyzing 28 HCM-associated genes, including the most frequent 4 HCM-associated sarcomere genes, as well as 24 genes with lower reported HCM-phenotype association. We analyzed 80 Portuguese individuals with clinical phenotype of HCM allowing simultaneously a better characterization of this disease in the Portuguese population. HRM technology allowed us to identify 60 mutated alleles in 72 HCM patients: 49 missense mutations, 3 nonsense mutations, one 1-bp deletion, one 5-bp deletion, one in frame 3-bp deletion, one insertion/deletion, 3 splice mutations, one 5'UTR mutation in MYH7, MYBPC3, TNNT2, TNNI3, CSRP3, MYH6 and MYL2 genes. Significantly 22 are novel gene mutations. HRM was proven to be a technique with high sensitivity and a low false positive ratio allowing a rapid, innovative and low cost genotyping of HCM. In a short return, HRM as a gene scanning technique could be a cost-effective gene-based diagnosis for an accurate HCM genetic diagnosis and hopefully providing new insights into genotype/phenotype correlations.
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LD-PCR，DHPLC，Multiplex PCR和HRM的临床应用，来自台湾人口的122个血友病的突变光谱。
影响因子：
--
作者：
Lin, Shin-Yu;Su, Yi-Ning;Hung, Chia-Cheng;Tsay, Woei;Chiou, Shyh-Shin;Chang, Chieh-Ting;Ho, Hong-Nerng;Lee, Chien-Nan
通讯作者：
Lee, Chien-Nan
影响因子：
9.8
作者：
Antonicka, H;Mattman, A;Shoubridge, EA
通讯作者：
Shoubridge, EA
影响因子：
3.9
作者：
Andersen, Paal Skytt;Havndrup, Ole;Bundgaard, Henning
通讯作者：
Bundgaard, Henning
影响因子：
3.4
作者：
Ho CY
通讯作者：
Ho CY
影响因子：
10.8
作者：
Hanninen, Sandra L.;Ronkainen, Jarkko J.;Tavi, Pasi
通讯作者：
Tavi, Pasi