A high frequency of length polymorphisms in repeated sequences adjacent to Alu sequences.
A high frequency of length polymorphisms in repeated sequences adjacent to Alu sequences.
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DOI：
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发表时间：
1990-05
影响因子：
9.8
通讯作者：
G. Zuliani;H. Hobbs
中科院分区：
文献类型：
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作者：
G. Zuliani;H. Hobbs
我们描述了一类新的 DNA 长度多态性，它是由于与 Alu 序列相关的串联重复数量的变化（Alu 序列相关多态性）造成的。使用聚合酶链式反应从 41 名人类受试者的基因组 DNA 中选择性扩增 3-羟基-3-甲基戊二酰辅酶 A (HMG CoA) 还原酶基因中鉴定的 (TTA)n 重复序列，并通过凝胶电泳测定扩增产物的大小。发现了七个等位基因，其大小因三个核苷酸的积分而异。等位基因频率范围为1.5%至52%，总体杂合度指数为62%。多态性 TTA 重复序列位于 Alu 家族重复序列附近。对人类基因组 DNA 序列的三核苷酸 TTA（长度至少有五个成员）的同源性搜索揭示了其他六个基因中的串联重复。六个 (TTA)n 重复中的三个位于 Alu 序列附近，三个中的两个（在 β-微管蛋白和白细胞介素-1 α 的基因中）被发现长度多态性。与 Alu 序列相关的串联重复序列可能是长度多态性的常见位点，可用作基因作图或连锁分析的遗传标记。
We describe a new class of DNA length polymorphism that is due to a variation in the number of tandem repeats associated with Alu sequences (Alu sequence-related polymorphisms). The polymerase chain reaction was used to selectively amplify a (TTA)n repeat identified in the 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase gene from genomic DNA of 41 human subjects, and the size of the amplified products was determined by gel electrophoresis. Seven alleles were found that differed in size by integrals of three nucleotides. The allele frequencies ranged from 1.5% to 52%, and the overall heterozygosity index was 62%. The polymorphic TTA repeat was located adjacent to a repetitive sequence of the Alu family. A homology search of human genomic DNA sequences for the trinucleotide TTA (at least five members in length) revealed tandem repeats in six other genes. Three of the six (TTA)n repeats were located adjacent to Alu sequences, and two of the three (in the genes for beta-tubulin and interleukin-1 alpha) were found to be polymorphic in length. Tandemly repetitive sequences found in association with Alu sequences may be frequent sites of length polymorphism that can be used as genetic markers for gene mapping or linkage analysis.