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Linkage relationships of X-linked choroideremia to DXYS1 and DXS3.

作者信息

MacDonald I M, Sandre R M, Wong P, Hunter A G, Tenniswood M P

机构信息

Department of Biochemistry, Faculty of Health Sciences, University of Ottawa, Ontario, Canada.

出版信息

Hum Genet. 1987 Nov;77(3):233-5. doi: 10.1007/BF00284475.

DOI:10.1007/BF00284475
PMID:2890569
Abstract

Choroideremia is a distinct blinding condition with an X-linked pattern of inheritance. We have analyzed two RFLPs, DXS3 and DXYS1, for linkage with the choroideremia locus (TCD) within three kindreds. A maximum LOD score of 3.98 was obtained at theta = 0.14 for TCD:DXS3. The summed maximum LOD score from this study and from previously published TCD:DXYS1 data is 5.23 at theta = 0.05. Contrary to previous reports, the present data demonstrate that these two RFLPs are not tightly linked to the choroideremia gene locus.

摘要

相似文献

1
Linkage relationships of X-linked choroideremia to DXYS1 and DXS3.
Hum Genet. 1987 Nov;77(3):233-5. doi: 10.1007/BF00284475.
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
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.
4
Choroideremia-locus maps between DXS3 and DXS11 on Xq.
Hum Genet. 1986 Jun;73(2):123-6. doi: 10.1007/BF00291600.
5
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.
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A genetic linkage study of choroideremia.脉络膜缺损的基因连锁研究。
Ophthalmic Paediatr Genet. 1986 Dec;7(3):201-4. doi: 10.3109/13816818609004139.
7
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。
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8
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.
9
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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10
Choroideremia: linkage analysis with physically mapped close DNA-markers.无脉络膜症：与物理定位的紧密DNA标记进行连锁分析。
Hum Genet. 1991 Jul;87(3):348-52. doi: 10.1007/BF00200918.

引用本文的文献

1
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.
2
Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases.
Am J Hum Genet. 1990 Oct;47(4):622-8.
3
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.

本文引用的文献

1
A hereditary and clinical study of choroideremia.无脉络膜症的遗传与临床研究。
Trans Am Acad Ophthalmol Otolaryngol. 1948 Jan-Feb;52:160-90.
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
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。
4
Choroideremia: linkage analysis with physically mapped close DNA-markers.无脉络膜症：与物理定位的紧密DNA标记进行连锁分析。
Hum Genet. 1991 Jul;87(3):348-52. doi: 10.1007/BF00200918.
5
Isolation of a candidate gene for choroideremia.
Proc Natl Acad Sci U S A. 1992 Mar 15;89(6):2135-9. doi: 10.1073/pnas.89.6.2135.
Proc Natl Acad Sci U S A. 1982 Sep;79(17):5352-6. doi: 10.1073/pnas.79.17.5352.
4
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.
5
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.
6
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.
7
Report of the Committee on Methods of Linkage Analysis and Reporting.连锁分析与报告方法委员会报告
Cytogenet Cell Genet. 1985;40(1-4):356-9. doi: 10.1159/000132186.
8
Choroideremia-locus maps between DXS3 and DXS11 on Xq.
Hum Genet. 1986 Jun;73(2):123-6. doi: 10.1007/BF00291600.
9
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.