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Choroideremia-locus maps between DXS3 and DXS11 on Xq.

作者信息

Gal A, Brunsmann F, Hogenkamp D, Rüther K, Ahlert D, Wienker T F, Hammerstein W, Pawlowitzki I H

出版信息

Hum Genet. 1986 Jun;73(2):123-6. doi: 10.1007/BF00291600.

DOI:10.1007/BF00291600
PMID:3755117
Abstract

Choroideremia is a progressive tapetochoroidal dystrophy with X-linked transmission leading frequently to blindness in affected males. The choroideremia-locus (TCD) has recently been assigned to the long arm of the X chromosome by linkage to polymorphic DNA markers. In order to further define the location of the gene defect, two families segregating for choroideremia were examined for DNA restriction fragment length polymorphisms. A search was undertaken for linkage with cloned DNA probes from the proximal short and long arm as well as from the mid-portion of the long arm of the X chromosome. Our data suggest that the most plausible gene order on the Xq is: Xcen-DXYS1-DXS3-TCD-DXS11-Xqter.

摘要

相似文献

1
Choroideremia-locus maps between DXS3 and DXS11 on Xq.
Hum Genet. 1986 Jun;73(2):123-6. doi: 10.1007/BF00291600.
2
Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21.无脉络膜症与位于XQ13 - 21的限制性片段长度多态性DXYS1相关。
Am J Hum Genet. 1985 May;37(3):473-81.
3
Mapping X-linked ophthalmic diseases. Provisional assignment of the locus for choroideremia to Xq13-q24.绘制X连锁眼病图谱。视网膜色素变性基因座暂时定位于Xq13-q24。
Ophthalmology. 1985 Jun;92(6):800-6. doi: 10.1016/s0161-6420(85)33956-8.
4
Linkage relationships of X-linked choroideremia to DXYS1 and DXS3.
Hum Genet. 1987 Nov;77(3):233-5. doi: 10.1007/BF00284475.
5
Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia.利用与脉络膜缺损相关的缺失对X染色体近端长臂上的多态性DNA位点进行区域定位。
Hum Genet. 1988 Feb;78(2):156-60. doi: 10.1007/BF00278188.
6
Multipoint linkage analysis of loci in the proximal long arm of the human X chromosome: application to mapping the choroideremia locus.人类X染色体长臂近端基因座的多点连锁分析:应用于脉络膜缺损基因座的定位
Am J Hum Genet. 1987 Apr;40(4):303-11.
7
Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion.伴有智力发育迟缓的X连锁性视网膜色素变性的产前诊断,与细胞学可检测到的X染色体缺失相关。
Hum Genet. 1987 Mar;75(3):286-90. doi: 10.1007/BF00281076.
8
Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical-genealogical evidence.视网膜色素变性:通过分离分析和历史系谱证据证明与DXYS1和DXYS12紧密连锁。
Clin Genet. 1987 May;31(5):315-22. doi: 10.1111/j.1399-0004.1987.tb02815.x.
9
Choroideremia: further evidence for assignment of the locus to Xq13-Xq21.无脉络膜症:将该基因座定位于Xq13 - Xq21的进一步证据。
Hum Genet. 1986 Dec;74(4):449-52. doi: 10.1007/BF00280505.
10
Choroideremia in interstitial deletion of the X chromosome.X染色体间质缺失导致的无脉络膜症。
Ophthalmic Paediatr Genet. 1986 Dec;7(3):205-10. doi: 10.3109/13816818609004140.

引用本文的文献

1
Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia.利用与脉络膜缺损相关的缺失对X染色体近端长臂上的多态性DNA位点进行区域定位。
Hum Genet. 1988 Feb;78(2):156-60. doi: 10.1007/BF00278188.
2
Diagnosis of genetic disease using recombinant DNA. Supplement.使用重组DNA进行遗传病诊断。增刊。
Hum Genet. 1987 Sep;77(1):66-75. doi: 10.1007/BF00284717.
3
Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion.

本文引用的文献

1
Choroideremia; clinical and genetic aspects.无脉络膜症;临床与遗传学方面
Br J Ophthalmol. 1952 Oct;36(10):547-81. doi: 10.1136/bjo.36.10.547.
2
A strategy to reveal high-frequency RFLPs along the human X chromosome.一种揭示人类X染色体上高频限制性片段长度多态性的策略。
Am J Hum Genet. 1984 May;36(3):546-64.
3
Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms.利用限制性片段长度多态性对人类X染色体进行基因定位。
伴有智力发育迟缓的X连锁性视网膜色素变性的产前诊断,与细胞学可检测到的X染色体缺失相关。
Hum Genet. 1987 Mar;75(3):286-90. doi: 10.1007/BF00281076.
4
Linkage relationships of X-linked choroideremia to DXYS1 and DXS3.
Hum Genet. 1987 Nov;77(3):233-5. doi: 10.1007/BF00284475.
5
Multipoint linkage analysis of loci in the proximal long arm of the human X chromosome: application to mapping the choroideremia locus.人类X染色体长臂近端基因座的多点连锁分析:应用于脉络膜缺损基因座的定位
Am J Hum Genet. 1987 Apr;40(4):303-11.
6
Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome.将伴有面部、牙齿和骨骼特征的X连锁白内障和小角膜基因定位到Xp22:对南斯-霍兰综合征的评估
Trans Am Ophthalmol Soc. 1989;87:658-728.
7
Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21.伴有镫骨固定的脉络膜视网膜萎缩症和耳聋:一种Xq21区域的相邻基因缺失综合征
Am J Hum Genet. 1989 Oct;45(4):530-40.
8
Linkage studies and deletion screening in choroideremia.脉络膜缺损的连锁研究与缺失筛查
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9
Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type.X连锁的奈特利希普-福尔斯型眼部白化病的多点连锁分析。
Hum Genet. 1991 Dec;88(2):162-6. doi: 10.1007/BF00206065.
Proc Natl Acad Sci U S A. 1984 May;81(9):2836-9. doi: 10.1073/pnas.81.9.2836.
4
Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes.单拷贝序列与人类X和Y染色体上的多态性和同源基因座杂交。
Proc Natl Acad Sci U S A. 1982 Sep;79(17):5352-6. doi: 10.1073/pnas.79.17.5352.
5
Occurrence of a transposition from the X-chromosome long arm to the Y-chromosome short arm during human evolution.在人类进化过程中发生了从X染色体长臂到Y染色体短臂的易位。
Nature. 1984;311(5982):119-23. doi: 10.1038/311119a0.
6
Choroideremia and the Xg blood group.视网膜色素变性和Xg血型。
Acta Ophthalmol (Copenh). 1968;46(1):79-82. doi: 10.1111/j.1755-3768.1968.tb02498.x.
7
Choroideremia: a clinical and pathologic review.视网膜色素变性:临床与病理综述。
Trans Am Ophthalmol Soc. 1969;67:142-95.
8
Choroideremia and the Xg locus: another look for linkage.视网膜色素变性与Xg血型位点:再次寻找连锁关系。
Clin Genet. 1971;2(4):239-41. doi: 10.1111/j.1399-0004.1971.tb00283.x.
9
The genetic linkage map of the human X chromosome.人类X染色体的遗传连锁图谱。
Science. 1985 Nov 15;230(4727):753-8. doi: 10.1126/science.4059909.
10
Report of the Committee on the Genetic Constitution of the X and Y Chromosomes.X和Y染色体遗传构成委员会报告
Cytogenet Cell Genet. 1985;40(1-4):296-352. doi: 10.1159/000132178.