Linkage studies and deletion screening in choroideremia.
case_series · Level IV
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- Record sourced from PubMed, PMID 1976814.
- Also identified by PMC identifier 1017197.
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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.
Medical subject headings
- Choroideremia
- Chromosome Deletion
- X Chromosome