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首页> 美国卫生研究院文献>Genome Research >The CMT2D Locus: Refined Genetic Position and Construction of a Bacterial Clone-Based Physical Map
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The CMT2D Locus: Refined Genetic Position and Construction of a Bacterial Clone-Based Physical Map

机译：CMT2D基因座：精制的遗传位置和基于细菌克隆的物理图谱的构建

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Charcot-Marie-Tooth (CMT) disease is a progressive neuropathy of the peripheral nervous system, typically characterized by muscle weakness of the distal limbs. CMT is noted for its genetic heterogeneity, with four distinct loci already identified for the axonal form of the disease (CMT2). In 1996, linkage analysis of a single large family revealed the presence of a CMT2 locus on chromosome 7p14 (designated CMT2D). Additional families have been linked subsequently to the same genomic region, including one with distal spinal muscular atrophy (dSMA) and one with mixed features of dSMA and CMT2; symptoms in both of these latter families closely resemble those seen in the original CMT2D family. There is thus a distinct possibility that CMT2 and dSMA encountered in these families reflect allelic heterogeneity at a single chromosome 7 locus. In the study reported here, we have performed more detailed linkage analysis of the original CMT2D family based on new knowledge of the physical locations of various genetic markers. The region containing the CMT2D gene, as defined by the original family, overlaps with those defined by at least two other families with CMT2 and/or dSMA symptoms. Both yeast artificial chromosome (YAC) and bacterial clone-based [bacterial artificial chromosome (BAC) and P1-derived artificial chromosome (PAC)] contig maps spanning ∼3.4 Mb have been assembled across the combined CMT2D critical region, with the latter providing suitable clones for systematic sequencing of the interval. Preliminary analyses have already revealed at least 28 candidate genes and expressed-sequence tags (ESTs). The mapping information reported here in conjunction with the evolving sequence data should expedite the identification of the CMT2D/dSMA gene or genes.
机译：Charcot-Marie-Tooth（CMT）病是周围神经系统的进行性神经病，通常以远端肢体的肌肉无力为特征。 CMT因其遗传异质性而闻名，已经为该疾病的轴突形式（CMT2）确定了四个不同的基因座。在1996年，对一个大家族的连锁分析表明，在7p14染色体（称为CMT2D）上存在一个CMT2基因座。随后，又有其他家族与同一基因组区域相关联，包括一个带有远端脊髓性肌萎缩症（dSMA）的家族，另一个带有dSMA和CMT2混合特征的家族。后两个家族的症状与原始CMT2D家族中的症状极为相似。因此，在这些家族中遇到的CMT2和dSMA存在在单个7号染色体位点反映等位基因异质性的独特可能性。在这里报告的研究中，我们基于对各种遗传标记物物理位置的新知识，对原始CMT2D家族进行了更详细的连锁分析。如原始家族定义的那样，包含CMT2D基因的区域与至少两个其他具有CMT2和/或dSMA症状的家族定义的区域重叠。跨越约3.4 Mb的酵母人工染色体（YAC）和基于细菌克隆的[细菌人工染色体（BAC）和P1衍生的人工染色体（PAC）]重叠图均已在组合的CMT2D关键区域内组装，后者提供了合适的克隆用于间隔的系统测序。初步分析已经揭示了至少28个候选基因和表达序列标签（EST）。此处报道的定位信息与进化的序列数据结合在一起，应能加快CMT2D / dSMA基因的识别速度。

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