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人类染色体17(D17S2205)和11(D11S4975)着丝粒区域内的信息性基因多态性标记。

Informative genetic polymorphic markers within the centromeric regions of human chromosomes 17 (D17S2205) and 11 (D11S4975).

作者信息

Laurent A M, Puechberty J, Prades C, Roizès G

机构信息

Séquences Répétées et Centromères Humains, CNRS ERS 155, Institut de Biologie, 4 Boulevard Henri IV, Montpellier Cedex, 34060, France.

出版信息

Genomics. 1998 Sep 1;52(2):166-72. doi: 10.1006/geno.1998.5428.

Abstract

We have taken advantage of the presence of retrotransposed L1 elements within the centromeric alphoid sequences of the human genome to characterize polymorphic markers at the centromeres of human chromosomes 17 and 11 (D17S2205 and D11S4975, respectively). They correspond to microsatellites found at the 3' ends of L1 elements inserted within the alpha satellite sequences of the two chromosomes. They were detected after PCR by direct analysis in sequencing gels. Eight and five alleles, respectively, were found with heterozygosities of 0.67 and 0.68. They were converted into STSs by designing primers specific for each. D17S2205 and D11S4975 can be used as genuine anchor-informative genetic points for chromosomes 17 and 11. Both markers have been placed on the available genetic maps of their centromeric regions. The alphoid domain within which D17S2205 is embedded is ancestral to the canonical ones on chromosome 17 that exhibit several haplotypes in present-day human populations.

摘要

我们利用人类基因组着丝粒α卫星序列中逆转座L1元件的存在,来鉴定人类17号和11号染色体着丝粒处的多态性标记(分别为D17S2205和D11S4975)。它们对应于插入在两条染色体α卫星序列内的L1元件3'端发现的微卫星。通过在测序凝胶中直接分析,PCR后检测到它们。分别发现了8个和5个等位基因,杂合度分别为0.67和0.68。通过为每个等位基因设计特异性引物,将它们转化为STS。D17S2205和D11S4975可作为17号和11号染色体真正的锚定信息遗传位点。这两个标记都已定位到其着丝粒区域的可用遗传图谱上。D17S2205所在的α卫星结构域是17号染色体上典型结构域的祖先,在当今人类群体中呈现出几种单倍型。

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