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人类α-珠蛋白基因簇的一种新的高变标记。

A new hypervariable marker for the human alpha-globin gene cluster.

作者信息

Jarman A P, Higgs D R

机构信息

University of Oxford, John Radcliffe Hospital, Nuffield Department of Clinical Medicine, Headington, England.

出版信息

Am J Hum Genet. 1988 Sep;43(3):249-56.

PMID:2901223
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1715380/
Abstract

We have located a highly polymorphic region of DNA approximately 100 kb upstream of the human alpha-globin genes (the alpha-globin 5' hypervariable region; 5'HVR). The element responsible is a minisatellite sequence comprising a variable copy number tandem repeat array of a G/C-rich 57-bp sequence. This increases the number of minisatellite elements in the vicinity of the alpha-globin genes to five, all of which share a region of sequence identity, thus raising questions concerning the distribution and origins of such tandem repeat sequences. The 5'HVR is highly polymorphic and, together with other hypervariable regions at this locus, provides a valuable genetic marker on the short arm of chromosome 16.

摘要

我们在人类α-珠蛋白基因上游约100 kb处定位了一个高度多态性的DNA区域（α-珠蛋白5'高变区；5'HVR）。相关元件是一个小卫星序列，由富含G/C的57 bp序列的可变拷贝数串联重复阵列组成。这使得α-珠蛋白基因附近的小卫星元件数量增加到五个，所有这些元件都共享一个序列同一性区域，从而引发了关于此类串联重复序列的分布和起源的问题。5'HVR具有高度多态性，并且与该基因座的其他高变区一起，在16号染色体短臂上提供了一个有价值的遗传标记。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5bd/1715380/b9e0126aef55/ajhg00119-0033-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5bd/1715380/b9e0126aef55/ajhg00119-0033-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5bd/1715380/b9e0126aef55/ajhg00119-0033-a.jpg

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本文引用的文献

1
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Nature. 1982 Jan 7;295(5844):31-5. doi: 10.1038/295031a0.
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Molecular basis of length polymorphism in the human zeta-globin gene complex.人类ζ-珠蛋白基因复合体长度多态性的分子基础。
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Complete nucleotide sequences of the T24 human bladder carcinoma oncogene and its normal homologue.T24人膀胱癌癌基因及其正常同源基因的完整核苷酸序列。
α地中海贫血/智力发育迟缓综合征（ATR-16）中16号染色体短臂的从头截断及（TTAGGG）n修复。
Am J Hum Genet. 1993 Apr;52(4):668-76.
4
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6
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EMBO J. 1995 Apr 18;14(8):1718-26. doi: 10.1002/j.1460-2075.1995.tb07161.x.
7
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