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Phasic study of the new susceptible gene locus of myotonic dystrophy
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- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF NEUROMEDICINE
- Issue:
- 3
- DOI:
- 10.3760/cma.j.issn.1671-8925.2005.03.003
- Key Word:
- 强直性肌营养不良;聚合酶链反应;微卫星标记;连锁分析
Abstract： 目的研究强直性肌营养不良症(MD)是否存在致病新位点及可能的致病新位点的位置.方法以中国上海地区一个较大的MD家系的31名成员为研究对象,抽取血样后首先进行MD1及MD2位点PCR扩增,并PAGE电泳检测;对该家系的部分成员血样进行MD1位点克隆和测序检测,在MD1和MD2位点未显示异常之后,采用全基因组扫描技术为平台的连锁分析方法,计算LOD值,以判定某些可能与MD连锁的基因位点.结果该家系31名成员的血样MD1及MD2位点未显示寡核苷酸串的异常扩增;并经参数型连锁分析,其MD1及MD2位点两侧微卫星标记的LOD值均小于0.3,在D1S484、D2S486、D5S641、D5S471、D5S436、D6S434、D12S79、D14S70、D14S292位点得到的LOD值分别为1.9393(θ=0.0)、1.2857(θ=0.1)、1.1064(θ=0.1)、1.4488(θ=0.0)、1.1298(θ=0.1)、1.6851(θ=0.0)、1.3882(θ=0.1)、1.1212(θ=0.1)、1.7720(θ=0.0).提示这些标记可能与MD存在连锁关系.结论强直性肌营养不良症(MD)极可能存在致病新位点,并且致病新位点可能存在于以上微卫星标记处.
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