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首页> 外文期刊>Genomics >A radiation hybrid map of 48 loci including the clouston hidrotic ectodermal dysplasia locus in the pericentromeric region of chromosome 13q.
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A radiation hybrid map of 48 loci including the clouston hidrotic ectodermal dysplasia locus in the pericentromeric region of chromosome 13q.

机译：辐射杂交图谱，包括48个染色体的基因座，包括染色体13q的着丝粒附近区域的丛状丛生外胚层发育不良基因座。

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摘要

To facilitate the identification of the gene responsible for Clouston hidrotic ectodermal dysplasia (HED), we used a chromosome 13-specific radiation hybrid panel to map 54 loci in the HED candidate region. The marker retention data were analyzed using RHMAP version 3. The 54 markers have an average retention frequency of 31.6% with decreasing retention as a function of distance from the centromere. Two-point analysis identified three linkage groups with a threshold lod score of 4.00; one linkage group consisted of 49 loci including the centromeric marker D13Z1 and the telomeric flanking marker for the HED candidate region D13S143. Assuming a centromeric retention model, multipoint maximum likelihood analysis of these 49 loci except D13Z1 provided a 1000:1 framework map ordering 29 loci with 21 unique map positions and approximately 2000 times more likely than the next order. Loci that could not be ordered with this level of support were positioned within a range of adjacent intervals. This map spans 347 cR9000, has an average resolution of 17.3 cR9000, and includes 3 genes (TUBA2, GJbeta2, and FGF-9), 18 ESTs, 19 polymorphic loci, and 8 single-copy DNA segments. Comparison of our RH map to a YAC contig showed an inconsistency in order involving a reversed interval of 6 loci. Fiber-FISH and FISH on interphase nuclei analyses with PACs isolated from this region supported our order. We also describe the isolation of 8 new chromosome 13q polymorphic (CA)n markers that have an average PIC value of 0.67. These data and mapping reagents will facilitate the isolation of disease genes from this region. Copyright 1999 Academic Press.
机译：为了便于鉴定负责Clouston异种外生皮（HED）的基因，我们使用了13号染色体特异性放射杂交板来绘制HED候选区域中的54个基因座。使用RHMAP版本3分析标记保留数据。54个标记的平均保留频率为31.6％，保留率随着丝粒距离的增加而降低。两点分析确定了三个连锁组，lod阈值为4.00。一个连锁组由49个基因座组成，包括HED候选区域D13S143的着丝粒标记D13Z1和端粒侧翼标记。假设有着丝粒保留模型，对这49个基因座（D13Z1除外）的多点最大似然分析提供了1000：1框架图，将29个基因座排序为21个唯一的图谱位置，其可能性比下一个顺序高大约2000倍。无法在此级别的支持下订购的基因座位于一定范围的相邻区间内。该图谱跨度为347 cR9000，平均分辨率为17.3 cR9000，包括3个基因（TUBA2，GJbeta2和FGF-9），18个EST，19个多态性基因座和8个单拷贝DNA片段。我们的RH图与YAC重叠群的比较显示不一致，顺序涉及6个位点的反向间隔。用Fiber-FISH和FISH对从该区域分离出的PAC进行相间核分析可支持我们的研究。我们还描述了平均PIC值为0.67的8个新染色体13q多态性（CA）n标记的分离。这些数据和作图试剂将有助于从该区域分离疾病基因。版权所有1999 Academic Press。

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