Henske E P, Kwiatkowski D J
Division of Experimental Medicine, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.
Genomics. 1995 Jul 1;28(1):105-8. doi: 10.1006/geno.1995.1113.
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 alpha, and TAN1--from the AK1 to D9S114 interval. This excludes them as disease genes for tuberous sclerosis.
我们构建了人类9号染色体q34区域结节性硬化症（TSC1）的长程限制性图谱，范围从ABL（T39-2-2）延伸至D9S114。物理图谱包含五个基因和七个匿名标记。ABL与D9S114之间的最大距离为5.4兆碱基对（Mb）。D9S149与D9S114之间的TSC1关键区域最大距离为2.7 Mb。该区域遗传距离与物理距离的比率为1厘摩（cM）：600千碱基对（kb）。我们还使用Southern印迹分析和一个辐射杂种细胞系E6B，将AK1至D9S114区间内的三个基因——PBX3A、RXRα和TAN1排除在外。这排除了它们作为结节性硬化症致病基因的可能性。
