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. 1986 Dec;74(4):449-52.
doi: 10.1007/BF00280505.

Choroideremia: further evidence for assignment of the locus to Xq13-Xq21

M Schwartz, T Rosenberg, E Niebuhr, C Lundsteen, H Sardemann, O Andersen, H M Yang, L U Lamm

Choroideremia: further evidence for assignment of the locus to Xq13-Xq21

M Schwartz et al. Hum Genet. 1986 Dec.

Abstract

Choroideremia is an X-linked hereditary retinal dystrophy leading to blindness in early adulthood. RFLP analyses in three Danish families were consistent with close linkage between choroideremia and the locus DXYS1, located at Xq13-Xq21. Measurable linkage was found between choroideremia and DXS17, at Xq22. Furthermore, choroideremia was diagnosed in a boy with an interstitial deletion at Xq13-Xq21, strongly suggesting the assignment of the locus for choroideremia to this region of the X chromosome. The deletion also covered DXYS1, but did not include DXS17.

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