RT Journal Article
SR Electronic
T1 Linkage studies and deletion screening in choroideremia.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 496
OP 498
DO 10.1136/jmg.27.8.496
VO 27
IS 8
A1 Wright, A F
A1 Nussbaum, R L
A1 Bhattacharya, S S
A1 Jay, M
A1 Lesko, J G
A1 Evans, H J
A1 Jay, B
YR 1990
UL http://jmg.bmj.com/content/27/8/496.abstract
AB 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.