New strategies in molecular genetic studies of X-linked retinitis pigmentosa
نویسندگان
چکیده
منابع مشابه
X-linked retinitis pigmentosa.
Of 107 consecutive patients with genetically-determined retinitis pigmentosa, 23 were provisionally diagnosed as having inherited the disease in an X-linked fashion. 42 affected males and 61 females were examined, and from the data obtained the following conclusions were drawn: (1) X-linked retinitis pigmentosa exists and is distinct from choroideremia. (2) In contrast to the results of previou...
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Copyright: © 2013 Shu X. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Retinitis Pigmentosa (RP) is a group of heterogeneous genetic disorders with a worldwide prevalence of 1 in 4000 individuals [1]. RP can...
متن کاملa study on x-linked retinitis pigmentosa and its molecular diagnosis
purpose: retinitis pigmentosa (rp) is a hereditary eye disease in human beings. it commences at childhood and continues by nyctalopia and gradual reduction of visual field and ends up by blindness. it may be inherited in three forms of autosomal dominant, autosomal recessive and sex-linked. in this investigation we intend to study rp type as a sex-linked disease and its location on x chromosome...
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The X-linked RP3 locus codes for retinitis pigmentosa GTPase regulator (RPGR), a protein of unknown function with sequence homology to the guanine nucleotide exchange factor for Ran GTPase. We created an RPGR-deficient murine model by gene knockout. In the mutant mice, cone photoreceptors exhibit ectopic localization of cone opsins in the cell body and synapses and rod photoreceptors have a red...
متن کاملGenetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred.
Genetic linkage and deletion studies have led to the proposal that there are at least two loci on the X chromosome which are responsible for X linked retinitis pigmentosa (XLRP). One locus (RP3) has been closely defined by genetic linkage and deletion analyses and localised to the region between the ornithine transcarbamylase (OTC) and chronic granulomatous disease (CYBB) loci in Xp21.1-p11.4. ...
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ژورنال
عنوان ژورنال: Eye
سال: 1990
ISSN: 0950-222X,1476-5454
DOI: 10.1038/eye.1990.105