A 5.4-Mb continuous pulsed-field gel electrophoresis map of human 9q34.1 between ABL and D9S114, including the tuberous sclerosis (TSC1) region.
A 5.4-Mb continuous pulsed-field gel electrophoresis map of human 9q34.1 between ABL and D9S114, including the tuberous sclerosis (TSC1) region.
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ABL 和 D9S114 之间的人 9q34.1 的 5.4 Mb 连续脉冲场凝胶电泳图，包括结节性硬化症 (TSC1) 区域。
DOI：
10.1006/geno.1995.1113
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发表时间：
1995
期刊：
影响因子：
--
通讯作者：
Kwiatkowski,DJ
中科院分区：
文献类型：
--
作者：
Henske,EP;Kwiatkowski,DJ
我们构建了人类染色体9 q34的结节性硬化症（TSC 1）区域的长距离限制性内切酶图谱，从ABL（T39-2-2）延伸到D9 S114。物理图谱包括五个基因和七个匿名标记。ABL和D9 S114之间的最大距离为5.4 Mb。TSC 1的临界区，在D9 S149和D9 S114之间，具有2.7 Mb的最大距离。遗传距离与物理距离之比为1cM：600 kb。我们还使用Southern印迹分析和辐射杂交细胞系E6 B从AK 1至D9 S114区间排除了3个基因--PBX 3A、RXR α和TAN 1。这排除了它们作为结节性硬化症的疾病基因。
We constructed a long-range restriction map of the tuberous sclerosis (TSC1) region of human chromosome 9q34, extending from ABL (T39-2-2) to D9S114. The physical map includes five genes and seven anonymous markers. The maximum distance between ABL and D9S114 is 5.4 Mb. The TSC1 critical region, between D9S149 and D9S114, has a maximum distance of 2.7 Mb. The ratio of genetic and physical distance in the region is 1 cM:600 kb. We also used Southern blot analysis and a radiation hybrid cell line, E6B, to exclude 3 genes—PBX3A, RXR α, and TAN1—from the AK1 to D9S114 interval. This excludes them as disease genes for tuberous sclerosis.