Abstract:
PURPOSE:To localize and identify the gene and mutations causing autosomal dominant retinitis pigmentosa in a Chinese Family. METHODS:Families were ascertained and patients underwent complete ophthalmic examinations. Blood samples were collected and DNA was extracted. A linkage scan of genomic regions containing known candidate genes was performed by using 34 polymorphic microsatellite markers on genomic DNA from affected and unaffected family members, and lod scores were calculated. Candidate genes were sequenced and mutations analyzed. RESULTS:A genome-wide scan yielded a lod score of 3.5 at theta = 0 for D2S2333 and 3.46 at theta = 0 for D2S2216. This region harbors the ASCC3L1 gene. Sequencing of ASCC3L1 in an affected family member showed a heterozygous single-base-pair change; c.3269G-->T, predicted to result in an Arg1090Leu amino acid change. CONCLUSIONS:The results provide strong evidence that mutations in ASCC3L1 have resulted in autosomal dominant retinitis pigmentosa in this Chinese family.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Li N,Mei H,MacDonald IM,Jiao X,Hejtmancik JFdoi
10.1167/iovs.09-3725subject
Has Abstractpub_date
2010-02-01 00:00:00pages
1036-43issue
2eissn
0146-0404issn
1552-5783pii
iovs.09-3725journal_volume
51pub_type
杂志文章abstract:PURPOSE:To determine whether transcorneal electrical stimulation (TES) has neuroprotective effects on the photoreceptors, and whether it slows the rate of decrease of the electroretinogram (ERG) in rhodopsin P347L transgenic (Tg) rabbits. METHODS:Six-week-old Tg rabbits received TES through a contact lens electrode on...
journal_title:Investigative ophthalmology & visual science
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journal_title:Investigative ophthalmology & visual science
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章,随机对照试验
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journal_title:Investigative ophthalmology & visual science
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doi:
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
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journal_title:Investigative ophthalmology & visual science
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更新日期:2012-09-14 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:2001-10-01 00:00:00
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pub_type: 杂志文章
doi:
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journal_title:Investigative ophthalmology & visual science
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