Abstract:
:Using library to library cross-screening we have identified a number of genomic clones that harbor X-linked sequences expressed in the human choroid/retina. We describe the characterization of one of these, designated XEH.8 (DXS542), which is localized to Xp11.3-q12. Isolation, partial sequencing, and Northern analysis of the cognate cDNA (XEH.8c), has shown that the cDNA has some homology to the dystrophin gene and hybridizes to a 10-kb mRNA present in the choroid and retina but not in fibroblasts. This expressed sequence maps to the same region of the X chromosome as several known X-linked ophthalmic diseases, including Norrie disease, retinitis pigmentosa 2, congenital night blindness and Aland Island eye disease.
journal_name
Genomicsjournal_title
Genomicsauthors
Wong P,MacDonald IM,Sood R,Smith C,Pilon R,Tenniswood Mdoi
10.1006/geno.1993.1096subject
Has Abstractpub_date
1993-03-01 00:00:00pages
467-71issue
3eissn
0888-7543issn
1089-8646pii
S0888-7543(83)71096-7journal_volume
15pub_type
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