脉络膜缺损的连锁研究与缺失筛查
Linkage studies and deletion screening in choroideremia.
作者信息
Wright A F, Nussbaum R L, Bhattacharya S S, Jay M, Lesko J G, Evans H J, Jay B
机构信息
MRC Human Genetics Unit, Western General Hospital, Edinburgh.
出版信息
J Med Genet. 1990 Aug;27(8):496-8. doi: 10.1136/jmg.27.8.496.
Abstract
Fourteen families with choroideremia (TCD) have been examined for linkage to nine genetic markers located on the proximal long arm of the X chromosome. Linkage to three markers (DXYS1, DXS72, DXS3) located in Xq21 was found with a four point lod score of 8.25. No evidence of submicroscopic deletions was observed using DXS233 and DXS232, both thought to lie within about 1 Mb of the TCD gene.
摘要
对14个患有先天性无脉络膜症（TCD）的家族进行了检测，以确定与位于X染色体长臂近端的9个遗传标记的连锁关系。发现与位于Xq21的3个标记（DXYS1、DXS72、DXS3）存在连锁关系，四点连锁值为8.25。使用DXS233和DXS232未观察到亚显微缺失的证据，这两个标记都被认为位于TCD基因约1 Mb范围内。
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本文引用的文献
1
Strategies for multilocus linkage analysis in humans.
Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443-6. doi: 10.1073/pnas.81.11.3443.
2
Regional localization on the human X of DNA segments cloned from flow sorted chromosomes.
Nucleic Acids Res. 1982 Mar 11;10(5):1557-78. doi: 10.1093/nar/10.5.1557.
3
Report of the Committee on Methods of Linkage Analysis and Reporting.
Cytogenet Cell Genet. 1985;40(1-4):356-9. doi: 10.1159/000132186.
4
Choroideremia-locus maps between DXS3 and DXS11 on Xq.
Hum Genet. 1986 Jun;73(2):123-6. doi: 10.1007/BF00291600.
5
Deletion of the DXS165 locus in patients with classical choroideremia.
Clin Genet. 1987 Dec;32(6):421-3. doi: 10.1111/j.1399-0004.1987.tb03166.x.
6
7
Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation.
Proc Natl Acad Sci U S A. 1987 Sep;84(18):6521-5. doi: 10.1073/pnas.84.18.6521.
8
A multipoint linkage analysis program for X-linked disorders, with the example of Duchenne muscular dystrophy and seven DNA probes.
Hum Genet. 1986 May;73(1):68-72. doi: 10.1007/BF00292667.
9
Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion.
Hum Genet. 1987 Mar;75(3):286-90. doi: 10.1007/BF00281076.
10
Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21.
Am J Hum Genet. 1985 May;37(3):473-81.
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