INFORMATIVENESS OF HUMAN (DC-DA)N.(DG-DT)N POLYMORPHISMS
INFORMATIVENESS OF HUMAN (DC-DA)N.(DG-DT)N POLYMORPHISMS
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DOI：
10.1016/0888-7543(90)90195-z
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发表时间：
1990-08-01
期刊：
影响因子：
4.4
通讯作者：
WEBER, JL
中科院分区：
文献类型：
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作者：
WEBER, JL
大量人类散布着 (dC-dA)n .cntdot 形式的重复 DNA 序列。 (dG-dT)n 已被证明表现出长度多态性。对 100 多个人类 (dC-dA)n .cntdot 进行检查。 (dG-dT)n 序列表明，这些序列在重复次数和重复序列类型方面都彼此不同。使用一组精确的分类规则，将序列分为三类：CA或GT二核苷酸运行中没有中断的完美重复序列（占总数的64％），重复运行中有一个或多个中断的不完美重复序列（25％），以及具有不同序列的相邻串联简单重复的复合重复序列（11％）。 (dC-dA)n .cntdot 的信息量。发现完美序列类别中的 (dG-dT)n 标记随着平均重复次数的增加而增加。 PIC 值的范围从大约 10 次或更少重复的 0 到大约 24 次或更多重复的序列的 0.8 以上。 (dC-dA)n .cntdot。不完美序列类别中的 (dG-dT)n 多态性显示的信息量低于基于重复总数的预期。最长的不间断 CA 或 GT 重复序列被发现是 (dC-dA)n .cntdot 信息量的最佳预测因子。 (dG-dT)n 多态性与重复序列类别无关。
Abundant human interspersed repetitive DNA sequences of the form (dC-dA)n .cntdot. (dG-dT)n have been shown to exhibit length polymorphisms. Examination of over 100 human (dC-dA)n .cntdot. (dG-dT)n sequences revealed that the sequences differed from each other both in numbers of repeats and in repeat sequence type. Using a set of precise classification rules, the sequences were divided into three categories: perfect repeat sequences without interruptions in the runs of CA or GT dinucleotides (64% of total), imperfect repeat sequences with one or more interruptions in the run of repeats (25%), and compound repeat sequences with adjacent tandem simple repeats of a different sequence (11%). Informativeness of (dC-dA)n .cntdot. (dG-dT)n markers in the perfect sequence category was found to increase with increasing average numbers of repeats. PIC values ranged from 0 at about 10 or fewer repeats to above 0.8 for sequences with about 24 or more repeats. (dC-dA)n .cntdot. (dG-dT)n polymorphisms in the imperfect sequence category showed lower informativeness than expected on the basis of the total numbers of repeats. The longest run of uninterrupted CA or GT repeats was found to be the best predictor of informativeness of (dC-dA)n .cntdot. (dG-dT)n polymorphisms regardless of the repeat sequence category.