Analysis of human chromosome 21: correlation of physical and cytogenetic maps; gene and CpG island distributions.
Analysis of human chromosome 21: correlation of physical and cytogenetic maps; gene and CpG island distributions.
复制标题
人类21号染色体分析：物理图谱和细胞遗传学图谱的相关性；
DOI：
10.1002/j.1460-2075.1990.tb08076.x
复制
发表时间：
1990
期刊：
影响因子：
--
通讯作者：
Patterson,D
中科院分区：
文献类型：
--
作者：
Gardiner,K;Horisberger,M;Kraus,J;Tantravahi,U;Korenberg,J;Rao,V;Reddy,S;Patterson,D
人类21号染色体已通过脉冲场凝胶电泳进行了分析，使用的是含有染色体有限区域和超过60个独特序列探针的体细胞杂交体。已鉴定出33个独立的NotI片段，总计4300万bp。这必须基本上占到整个长臂，因此地图中剩余的间隙必须很小。脉冲场图谱的范围允许物理图谱与细胞遗传学图谱的直接相关性：易位断点可以明确地沿着长臂定位，并且它们之间的距离以碱基对测量。已经确定了三个断点，提供了细胞遗传学标志的物理确认。已经获得了关于序列组织的信息：（i）60%的独特序列探针位于11个物理连锁群内，这些连锁群只能包含在20%的长臂中;（ii）9/21个基因在4%内聚集;（iii）易位断点似乎发生在CpG岛区域内，使得它们难以通过脉冲场技术进行鉴定。这项分析有助于人类基因组绘图工作，并提供信息，以指导21号染色体生物学的快速调查。
Human chromosome 21 has been analyzed by pulsed‐field gel electrophoresis using somatic cell hybrids containing limited regions of the chromosome and greater than 60 unique sequence probes. Thirty‐three independent NotI fragments have been identified, totalling 43 million bp. This must account for essentially the entire long arm, and therefore gaps remaining in the map must be small. The extent of the pulsed‐field map has allowed the direct correlation of the physical map with the cytogenetic map: translocation breakpoints can be unambiguously positioned along the long arm and the distances between them measured in base pairs. Three breakpoints have been identified, providing physical confirmation of cytogenetic landmarks. Information on sequence organization has been obtained: (i) 60% of the unique sequence probes are located within 11 physical linkage groups which can be contained in only 20% of the long arm; (ii) 9/21 genes are clustered within 4%; (iii) translocation breakpoints appear to occur within CpG island regions, making their identification difficult by pulsed‐field techniques. This analysis contributes to the human genome mapping effort, and provides information to guide the rapid investigation of the biology of chromosome 21.