Raeymaekers P, Van Zand K, Jun L, Höglund M, Cassiman J J, Van den Berghe H, Marynen P
Human Genome Laboratory, University of Leuven, Belgium.
Genomics. 1995 Sep 1;29(1):170-8. doi: 10.1006/geno.1995.1228.
We present a high-resolution radiation hybrid map of the short arm of human chromosome 12 containing 60 loci, including 44 STSs within or closely associated with expressed sequences, 11 highly polymorphic markers, 2 anonymous sequences, 2 subtelomeric sequences, and 1 centromeric sequence. The 60 loci fell into 48 unique retention patterns, providing a comprehensive map covering the entire short arm of chromosome 12 with an average resolution of approximately 800 kb. Twenty-two unique positions were ordered in a 1000:1 framework map with an average resolution of 1.8 Mb. The proposed order is in good agreement with recently published genetic maps, high-resolution FISH maps, and YAC contigs. The noted inconsistencies involved neighboring loci permutations. Our observations further suggest the existence of chromosomal "hot spots" for breakage during irradiation. In three regions an usually high number of breaks was noted between neighboring loci compared to the physical distance derived from existing YAC contigs. Some of these hot spots seem to coincide with known chromosomal aberrations, of which at least two have been involved in the etiology of cancer.
我们展示了人类12号染色体短臂的高分辨率辐射杂种图谱,该图谱包含60个位点,其中包括44个位于表达序列内或与表达序列紧密相关的序列标签位点(STS)、11个高度多态性标记、2个匿名序列、2个亚端粒序列和1个着丝粒序列。这60个位点呈现出48种独特的保留模式,形成了一张覆盖12号染色体整个短臂的综合图谱,平均分辨率约为800 kb。22个独特位置被排列在一个分辨率为1.8 Mb的1000:1框架图谱中。所提出的顺序与最近发表的遗传图谱、高分辨率荧光原位杂交(FISH)图谱以及酵母人工染色体(YAC)重叠群高度一致。所指出的不一致之处涉及相邻位点的排列。我们的观察结果进一步表明,在辐射过程中存在染色体断裂的“热点”。在三个区域中,与从现有YAC重叠群得出的物理距离相比,相邻位点之间的断裂数量通常较多。其中一些热点似乎与已知的染色体畸变重合,其中至少有两个与癌症的病因有关。