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一个重新定义亨廷顿舞蹈病区域的重组事件。

A recombination event that redefines the Huntington disease region.

作者信息

Snell R G, Thompson L M, Tagle D A, Holloway T L, Barnes G, Harley H G, Sandkuijl L A, MacDonald M E, Collins F S, Gusella J F

机构信息

Department of Medical Genetics, University of Wales College of Medicine, Cardiff, United Kingdom.

出版信息

Am J Hum Genet. 1992 Aug;51(2):357-62.

PMID:1386495
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1682687/
Abstract

We report both a recombination event that places the Huntington disease gene proximal to the marker D4S98 and an extended linkage-disequilibrium study that uses this marker and confirms the existence of disequilibrium between it and the HD locus. We also report the cloning of other sequences in the region around D4S98, including a new polymorphic marker R10 and conserved sequences that identify a gene in the region of interest.

摘要

我们报告了一个重组事件,该事件将亨廷顿舞蹈病基因定位到标记D4S98近端,还报告了一项扩展的连锁不平衡研究,该研究使用此标记并证实了它与HD基因座之间存在不平衡。我们还报告了D4S98周围区域其他序列的克隆情况,包括一个新的多态性标记R10以及确定了感兴趣区域内一个基因的保守序列。

相似文献

1
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.
2
Complex patterns of linkage disequilibrium in the Huntington disease region.亨廷顿病区域连锁不平衡的复杂模式。
Am J Hum Genet. 1991 Oct;49(4):723-34.
3
Linkage disequilibrium and recombination make a telomeric site for the Huntington's disease gene unlikely.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。
J Med Genet. 1991 Aug;28(8):520-2. doi: 10.1136/jmg.28.8.520.
4
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
Am J Hum Genet. 1992 Jun;50(6):1218-30.
5
Defining the proximal border of the Huntington disease candidate region by multipoint recombination analyses.通过多点重组分析确定亨廷顿舞蹈症候选区域的近端边界。
Genomics. 1993 Jun;16(3):599-604. doi: 10.1006/geno.1993.1236.
6
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.
7
Increased recombination adjacent to the Huntington disease-linked D4S10 marker.与亨廷顿病相关的D4S10标记附近的重组增加。
Genomics. 1991 Jan;9(1):104-12. doi: 10.1016/0888-7543(91)90226-5.
8
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.
9
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.
10
Significant linkage disequilibrium between the Huntington disease gene and the loci D4S10 and D4S95 in the Dutch population.在荷兰人群中,亨廷顿舞蹈症基因与D4S10和D4S95基因座之间存在显著的连锁不平衡。
Am J Hum Genet. 1992 Oct;51(4):730-5.

引用本文的文献

1
Defining the location of the Huntington disease gene.确定亨廷顿舞蹈症基因的位置。
Am J Hum Genet. 1993 Jan;52(1):214.
2
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.
3
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.

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
Selective transfer of individual human chromosomes to recipient cells.将人类个体染色体选择性转移至受体细胞。
Mol Cell Biol. 1985 Jan;5(1):140-6. doi: 10.1128/mcb.5.1.140-146.1985.
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Derivation of clones close to met by preparative field inversion gel electrophoresis.通过制备性场反转凝胶电泳获得接近met的克隆。
Science. 1987 Jun 5;236(4806):1305-8. doi: 10.1126/science.3035716.
4
Studies of a DNA marker (G8) genetically linked to Huntington disease in British families.对英国家庭中与亨廷顿舞蹈症存在基因关联的一种DNA标记(G8)的研究。
Hum Genet. 1986 Aug;73(4):333-9. doi: 10.1007/BF00279096.
5
A cell hybrid and recombinant DNA library that facilitate identification of polymorphic loci in the vicinity of the Huntington disease gene.一种有助于鉴定亨廷顿舞蹈病基因附近多态性位点的细胞杂交体和重组DNA文库。
Am J Hum Genet. 1986 Sep;39(3):397-403.
6
Fine mapping of the Huntington disease linked D4S10 locus by non-radioactive in situ hybridization.通过非放射性原位杂交对与亨廷顿病相关的D4S10基因座进行精细定位。
Hum Genet. 1986 Aug;73(4):354-7. doi: 10.1007/BF00279100.
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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.
8
A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene.用于定位亨廷顿舞蹈病基因附近DNA片段的体细胞杂交板。
Genomics. 1987 Sep;1(1):29-34. doi: 10.1016/0888-7543(87)90101-7.
9
Huntington disease-linked restriction fragment length polymorphism localized within band p16.1 of chromosome 4 by in situ hybridization.通过原位杂交将与亨廷顿病相关的限制性片段长度多态性定位在4号染色体的p16.1带内。
Am J Hum Genet. 1986 Sep;39(3):383-91.
10
Recombination events suggest potential sites for the Huntington's disease gene.重组事件提示了亨廷顿舞蹈症基因的潜在位点。
Neuron. 1989 Aug;3(2):183-90. doi: 10.1016/0896-6273(89)90031-7.