Missense mutations of ACTA1 cause dominant congenital myopathy with cores
Missense mutations of ACTA1 cause dominant congenital myopathy with cores
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DOI：
10.1136/jmg.2004.020271
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发表时间：
2004-11-01
影响因子：
4
通讯作者：
Huebner, A
中科院分区：
文献类型：
--
作者：
Kaindl, AM;Rüschendorf, F;Huebner, A
我们研究了14例患者和27名未受影响的亲属的两个无关的家庭，德国（家庭1）和中国（家庭2）血统后，书面知情同意书。核心肌病的诊断建立在临床和组织病理学标准的基础上。117对5名患者的肌肉样本进行分析（家族1中的患者III：9，III：12，和IV：11，以及家族2中的患者II：2和III：2;图1）。使用ABI 3100遗传分析仪（Applied Biosystems，Foster City，CA，USA），通过标准半自动化方法，使用序列特异性正向和反向引物以及通用荧光标记的M13标记引物18进行微卫星分析。我们在已发表的人类连锁图谱（Ensembl基因组浏览器、人类基因组浏览器网关和GenomeBrowser基因组视图）中确认了RYR 1、SEPN 1、MYH 7和ACTA 1侧翼微卫星标记的顺序，并为每个基因位点扩增了4至6个标记。
METHODS Patients We studied 14 patients and 27 unaffected relatives of two unrelated families of German (family 1) and Chinese (family 2) descent after written informed consent was obtained. The diagnosis of core myopathy was established on the basis of clinical and histopathological criteria. 1 17 Analysis of muscle specimens was performed in five patients (patients III: 9, III: 12, and IV: 11 in family 1, and patients II: 2 and III: 2 in family 2; fig 1).Linkage analysis Genomic DNA was isolated from peripheral blood lymphocytes according to standard procedures. Microsatellite analysis was performed with sequence specific forward and reverse primers and universal fluorescent labeled M13 labelled primers18 by standard semi-automated methods using an ABI 3100 Genetic Analyzer (Applied Biosystems, Foster City, CA, USA). We confirmed the order of microsatellite markers flanking RYR1, SEPN1, MYH7, and ACTA1 in published human linkage maps (Ensembl Genome Browser, Human Genome Browser Gateway, and Entrez Genome View) and amplified four to six markers for each gene locus.