A 1.6-Mb P1-based physical map of the Down syndrome region on chromosome 21.
A 1.6-Mb P1-based physical map of the Down syndrome region on chromosome 21.
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21 号染色体上唐氏综合症区域基于 1.6 Mb P1 的物理图。
DOI：
10.1006/geno.1996.0160
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发表时间：
1996
期刊：
影响因子：
4.4
通讯作者：
Y. Sakaki
中科院分区：
文献类型：
--
作者：
M. Ohira;H. Ichikawa;E. Suzuki;M. Iwaki;K. Suzuki;F. Saito;T. Ikeuchi;I. Chumakov;H. Tanahashi;K. Tashiro;Y. Sakaki
21号染色体上的唐氏综合征（DS）区域，这是负责DS的主要特征，如特征性面部特征，先天性心脏缺陷，和精神发育迟滞，已被定义为分子分析的DS患者部分三体21。了2. 21 q22中D21 S17和ERG之间的标记D21 S55周围的5-Mb区域被认为是重要的，尽管不能排除其他区域的贡献。在这个区域，我们专注于一个NotI位点，LA 68（D21 S396，这是远端映射到D21 S17）和ERG之间的1.6 Mb区域，因为日本DS家族与部分三体21的分析显示，其三重区域的近端边界是远端LA 68。我们构建了P1重叠群，其中46个P1克隆覆盖了1.6 Mb区域的95%以上。还构建了使用BamHI的高分辨率限制性图谱以进行更详细的分析。我们的P1重叠群图谱补充了以前报道的其他物理图谱，并为进一步分析提供了有用的材料，包括DS区域的基因分离和测序。
The Down syndrome (DS) region on chromosome 21, which is responsible for the main features of DS such as characteristic facial features, a congenital heart defect, and mental retardation, has been defined by molecular analysis of DS patients with partial trisomy 21. The 2. 5-Mb region around the marker D21S55 between D21S17 and ERG in 21q22 is thought to be important, although contributions of other regions cannot be excluded. In this region, we focused on a 1.6-Mb region between a NotI site, LA68 (D21S396, which is mapped distal to D21S17) and ERG, because analysis of a Japanese DS family with partial trisomy 21 revealed that the proximal border of its triplicated region was distal to LA68. We constructed P1 contigs with 46 P1 clones covering more than 95% of the 1.6-Mb region. A high-resolution restriction map using BamHI was also constructed for more detailed analysis. Our P1 contig map supplements other physical maps previously reported and provides useful materials for further analysis including gene isolation and sequencing of the DS region.