Linkage studies and deletion screening in choroideremia.

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.

[1]  B. Trask,et al.  Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21. , 1989, American journal of human genetics.

[2]  R. Nussbaum,et al.  Report of the committee on the genetic constitution of the X chromosome. , 1988, Cytogenetics and cell genetics.

[3]  F. Cremers,et al.  Deletion of the DXS165 locus in patients with classical Choroideremia , 1987, Clinical genetics.

[4]  A. Bird,et al.  Linkage relationships between X-linked retinitis pigmentosa and nine short-arm markers: exclusion of the disease locus from Xp21 and localization to between DXS7 and DXS14. , 1987, American journal of human genetics.

[5]  D. Ledbetter,et al.  Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation. , 1987, Proceedings of the National Academy of Sciences of the United States of America.

[6]  A. Chapelle,et al.  Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical‐genealogical evidence , 1987, Clinical genetics.

[7]  R. Nussbaum,et al.  Multipoint linkage analysis of loci in the proximal long arm of the human X chromosome: application to mapping the choroideremia locus. , 1987, American journal of human genetics.

[8]  N E Morton,et al.  Report of the Committee on Methods of Linkage Analysis and Reporting. , 1985, Cytogenetics and cell genetics.

[9]  R. Nussbaum,et al.  Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21. , 1985, American journal of human genetics.

[10]  J. Ott,et al.  Strategies for multilocus linkage analysis in humans. , 1984, Proceedings of the National Academy of Sciences of the United States of America.

[11]  S. Latt,et al.  Regional localization on the human X of DNA segments cloned from flow sorted chromosomes. , 1982, Nucleic acids research.

[12]  E. Southern Detection of specific sequences among DNA fragments separated by gel electrophoresis. , 1975, Journal of molecular biology.

[13]  R. Nussbaum,et al.  Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes. , 1989, Genomics.

[14]  M. Jay,et al.  A genetic linkage study of choroideremia. , 1986, Ophthalmic paediatrics and genetics.

[15]  C. Lundsteen,et al.  Choroideremia in interstitial deletion of the X chromosome. , 1986, Ophthalmic paediatrics and genetics.