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. 1988 Feb;78(2):156-60.
doi: 10.1007/BF00278188.

Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia

M Schwartz  1 , H M Yang, E Niebuhr, T Rosenberg, D C Page
Affiliations

Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia

M Schwartz et al. Hum Genet. 1988 Feb.

Abstract

In two unrelated families, males have been identified who suffer from choroideremia and at the same time have an interstitial deletion on the proximal long arm of the X chromosome. By high-resolution banding we have characterized the deletion chromosomes as del(X)(q21.1-q21.33) and del(X)(q21.2-q21.31) respectively. By Southern blot analysis we have mapped ten different polymorphic DNA loci relative to the position of the deletion and the choroideremia locus TCD. One probe, p31, was shown to cover one of the breakpoints of the smallest deletion. The following order of the loci was suggested by deletion mapping: cen-DXS106-DXS72-TCD-(DXYS1/DXYS23/DXYS5)- DXYS2-(DXYS12/DXS3)-(DXS17/DXS101)- Xqter.

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