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Deletion of the DXS165 locus in patients with classical Choroideremia
Author(s) -
Cremers F.P.M.,
Brunsmann F.,
Pol T.J.R.,
Pawlowitzki I.H.,
Paulsen K.,
Wieringa B.,
Ropers H.H.
Publication year - 1987
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1987.tb03166.x
Subject(s) - choroideremia , locus (genetics) , genetics , biology , gene
Using various probes from the Xq21 region which is known to carry the choroideremia (tapeto‐choroideal dystrophy, TCD) locus, we have screened the DNAs from eight unrelated male choroideremia patients for microdeletions. In two of these patients, but not in any of 45 males tested as controls, lack of hybridization signals with probe plbD5 suggested a deletion encompassing the DXS165 locus and (part of) the TCD gene. Absence of additional clinical features in these patients and the fact that two closely linked, and probably flanking, TCD markers (DXYS1 and DXS72) are not deleted may indicate that the physical distance between the DXS165 locus and the TCD gene is small.