Detection of restriction fragment length polymorphisms at the centromeres of human chromosomes by using chromosome-specific alpha satellite DNA probes: implications for development of centromere-based genetic linkage maps.
Detection of restriction fragment length polymorphisms at the centromeres of human chromosomes by using chromosome-specific alpha satellite DNA probes: implications for development of centromere-based genetic linkage maps.
复制标题
使用染色体特异性 α 卫星 DNA 探针检测人类染色体着丝粒的限制性片段长度多态性：对基于着丝粒的遗传连锁图谱开发的影响。
DOI：
10.1073/pnas.83.15.5611
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发表时间：
1986
影响因子：
11.1
通讯作者：
England,SB
中科院分区：
文献类型：
--
作者：
Willard,HF;Waye,JS;Skolnick,MH;Schwartz,CE;Powers,VE;England,SB
我们描述了一个通用的策略，用于检测高频率的限制性片段长度多态性在人类染色体的着丝粒区域的α卫星DNA，位于所有人类染色体的着丝粒附近的串联重复DNA的不同家庭的分子分析。为了说明这一策略，已在高严格条件下使用从两条人类染色体17和X分离的克隆的α卫星重复序列，所述高严格条件利用了该发散重复DNA家族的染色体特异性组织。在17号染色体和X染色体的着丝粒区域描述了多个高频限制性片段长度多态性。孟德尔遗传的变体被证明。特别是X连锁的α卫星多态性是高度信息化的，并构成了每个X染色体检查的几乎唯一的着丝粒DNA标记。由于我们描述的策略是一个通用的，α卫星DNA家族应该提供了丰富的来源，在人类基因组中的分子变异，并应有助于人类染色体的着丝粒为基础的遗传连锁图谱的发展。
We describe a general strategy for the detection of high-frequency restriction fragment length polymorphisms in the centromeric regions of human chromosomes by molecular analysis of alpha satellite DNA, a diverse family of tandemly repeated DNA located near the centromeres of all human chromosomes. To illustrate this strategy, cloned alpha satellite repeats isolated from two human chromosomes, 17 and X, have been used under high-stringency conditions that take advantage of the chromosome-specific organization of this divergent repeated DNA family. Multiple high-frequency restriction fragment length polymorphisms are described for the centromeric region of both chromosome 17 and X chromosome. Mendelian inheritance of the variants is demonstrated. The X-linked alpha satellite polymorphisms in particular are highly informative and constitute a virtually unique centromeric DNA marker for each X chromosome examined. Since the strategy we describe is a general one, the alpha satellite family of DNA should provide a rich source of molecular variation in the human genome and should contribute to the development of centromere-based genetic linkage maps of human chromosomes.