Linkage relationships of X-linked choroideremia to DXYS1 and DXS3

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 scor...

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Bibliographic Details
Published inHuman genetics Vol. 77; no. 3; p. 233
Main Authors MacDonald, I M, Sandre, R M, Wong, P, Hunter, A G, Tenniswood, M P
Format Journal Article
LanguageEnglish
Published Germany 01.11.1987
Subjects
Choroid
Chromosome Mapping
Female
Genetic Linkage
Genetic Markers
Humans
Male
Pedigree
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Uveal Diseases - genetics
X Chromosome
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Summary: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00284475