连锁不平衡和重组使得亨廷顿舞蹈症基因不太可能位于端粒位点。
Linkage disequilibrium and recombination make a telomeric site for the Huntington's disease gene unlikely.
作者信息
Barron L, Curtis A, Shrimpton A E, Holloway S, May H, Snell R G, Brock D J
机构信息
Human Genetics Unit, University of Edinburgh, Western General Hospital.
出版信息
J Med Genet. 1991 Aug;28(8):520-2. doi: 10.1136/jmg.28.8.520.
Abstract
In a Scottish family in which Huntington's disease (HD) was segregating, recombination was observed between the D4S115/S111 and D4S43/S95 loci, with the HD gene associated with the more proximal D4S43/S95 locus. Analysis of linkage disequilibrium in Scottish families showed significant non-random association between the HD gene and alleles at the D4S95 and D4S98 loci. This adds to previous evidence that the HD locus is not sited at the telomere of chromosome 4.
摘要
在一个亨廷顿舞蹈症（HD）呈分离状态的苏格兰家族中，观察到D4S115/S111和D4S43/S95位点之间发生了重组，HD基因与更靠近端粒的D4S43/S95位点相关联。对苏格兰家族连锁不平衡的分析表明，HD基因与D4S95和D4S98位点的等位基因之间存在显著的非随机关联。这进一步证明了HD基因座不在4号染色体的端粒处。
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引用本文的文献
1
Significant linkage disequilibrium between the Huntington's disease locus and markers at loci D4S10, D4S95, and D4S111 in Northern Ireland.在北爱尔兰，亨廷顿舞蹈症基因座与位于D4S10、D4S95和D4S111基因座的标记之间存在显著的连锁不平衡。
J Med Genet. 1993 Dec;30(12):1018-9. doi: 10.1136/jmg.30.12.1018.
2
Allele frequencies and linkage disequilibrium of polymorphic DNA markers of the Huntington disease region in the German population.德国人群中亨廷顿病区域多态性DNA标记的等位基因频率及连锁不平衡
Hum Genet. 1993 Dec;92(6):593-7. doi: 10.1007/BF00420945.
3
4
A recombination event that redefines the Huntington disease region.一个重新定义亨廷顿舞蹈病区域的重组事件。
Am J Hum Genet. 1992 Aug;51(2):357-62.
5
Recombination of 4p16 DNA markers in an unusual family with Huntington disease.亨廷顿病一个特殊家系中4p16 DNA标记的重组
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本文引用的文献
1
A polymorphic DNA marker genetically linked to Huntington's disease.一种与亨廷顿舞蹈症基因连锁的多态性DNA标记。
Nature. 1983;306(5940):234-8. doi: 10.1038/306234a0.
2
Mapping of D4S98/S114/S113 confines the Huntington's defect to a reduced physical region at the telomere of chromosome 4.D4S98/S114/S113的定位将亨廷顿氏病缺陷限定于4号染色体端粒处一个缩小的物理区域。
Nucleic Acids Res. 1988 Dec 23;16(24):11769-80. doi: 10.1093/nar/16.24.11769.
3
A highly polymorphic locus very tightly linked to the Huntington's disease gene.一个与亨廷顿舞蹈症基因紧密连锁的高度多态性位点。
Nature. 1988 Apr 21;332(6166):734-6. doi: 10.1038/332734a0.
4
A new DNA marker (D4S90) is located terminally on the short arm of chromosome 4, close to the Huntington disease gene.一种新的DNA标记（D4S90）位于4号染色体短臂的末端，靠近亨廷顿舞蹈症基因。
Genomics. 1989 Nov;5(4):802-9. doi: 10.1016/0888-7543(89)90122-5.
5
Clustering of multiallele DNA markers near the Huntington's disease gene.亨廷顿舞蹈症基因附近多等位基因DNA标记的聚类
J Clin Invest. 1989 Sep;84(3):1013-6. doi: 10.1172/JCI114222.
6
The Huntington disease locus is most likely within 325 kilobases of the chromosome 4p telomere.亨廷顿舞蹈病基因座极有可能位于4号染色体短臂端粒的325千碱基范围内。
Proc Natl Acad Sci U S A. 1989 Dec;86(24):10011-4. doi: 10.1073/pnas.86.24.10011.
7
Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene.在D4S95和D4S98处检测到的等位基因与亨廷顿舞蹈症基因之间的非随机关联。
J Med Genet. 1989 Nov;26(11):676-81. doi: 10.1136/jmg.26.11.676.
8
Linkage disequilibrium in Huntington's disease: an improved localisation for the gene.亨廷顿舞蹈病中的连锁不平衡：基因定位的改进
J Med Genet. 1989 Nov;26(11):673-5. doi: 10.1136/jmg.26.11.673.
9
Evidence from family studies that the gene causing Huntington disease is telomeric to D4S95 and D4S90.家族研究的证据表明，导致亨廷顿舞蹈症的基因位于D4S95和D4S90的端粒位置。
Am J Hum Genet. 1989 Mar;44(3):422-5.
10
A cloned DNA segment from the telomeric region of human chromosome 4p is not detectably rearranged in Huntington disease patients.来自人类4号染色体短臂端粒区域的一个克隆DNA片段在亨廷顿病患者中未检测到可察觉的重排。
Proc Natl Acad Sci U S A. 1990 Sep;87(18):7309-13. doi: 10.1073/pnas.87.18.7309.
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