A systematic approach for detecting high-frequency restriction fragment length polymorphisms using large genomic probes.
A systematic approach for detecting high-frequency restriction fragment length polymorphisms using large genomic probes.
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发表时间：
1985-07
影响因子：
9.8
通讯作者：
J. Feder;L. Yen;E. Wijsman;L. Wang;L. Wilkins;J. Schroder;N. Spurr;H. Cann;M. Blumenberg;L. L. Cavalli-Sforza-L.
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文献类型：
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作者：
J. Feder;L. Yen;E. Wijsman;L. Wang;L. Wilkins;J. Schroder;N. Spurr;H. Cann;M. Blumenberg;L. L. Cavalli-Sforza-L.
从人类DNA文库中分离出13个含有低拷贝序列的噬菌体克隆，并对其检测限制性片段长度多态性（RFLPs）的能力进行了测试。报告了每个克隆显示的RFLPs，所有发现的频率都对连锁研究有用。13个克隆中有5个的细胞学数据可用，通过原位杂交对其中3个标记进行了区域分配。由此可见，含有大量独特DNA插入片段的噬菌体克隆能够高效地检测多种RFLPs。通过将观察到的数据与基于识别和从二核苷酸分布计算的潜在位点频率的预期数据进行比较，分析了20种限制性内切酶检测单核苷酸变化的相对效率。最后，为了促进利用多态DNA序列进行连锁研究，我们利用各种来源的探针池进行了实验。
Thirteen phage clones containing low-copy sequences were isolated from a human DNA library and tested for their ability to detect restriction fragment length polymorphisms (RFLPs). Reported are the RFLPs revealed with each clone, all found in frequencies useful for linkage studies. Cytological data are available for five of the 13 clones, with regional assignments made for three of the markers by in situ hybridization. It is concluded that phage clones containing large unique DNA inserts detect multiple RFLPs with high efficiency. An analysis of the relative efficiency of 20 restriction enzymes for detecting single nucleotide changes is discussed by comparing the observed data to those expected on the basis of recognition and potential site frequencies, as computed from the dinucleotide distribution. Finally, in an effort to facilitate linkage studies using polymorphic DNA sequences, experiments were made with pools of probes from various sources.