Abstract：
PURPOSE:To localize and identify the gene and mutations causing autosomal recessive retinitis pigmentosa in three consanguineous Pakistani families. METHODS:Blood samples were collected and DNA was extracted. A genome-wide scan was performed by using 382 polymorphic microsatellite markers on genomic DNA from affected and unaffected family members, and lod scores were calculated. RESULTS:A genome-wide scan of 25 families gave an hlod = 4.53 with D8S260. Retinitis pigmentosa in all three families mapped to a 14.21-cM (21.19-Mb) region on chromosome 8 at q11, flanked by D8S532 and D8S260. This region harbors RP1, which is known to cause autosomal dominant retinitis pigmentosa. Sequencing of the coding exons of RP1 showed mutations in all three families: two single-base deletions, c.4703delA and c.5400delA, resulting in a frame shift, and a 4-bp insertion, c.1606insTGAA, all causing premature termination of the protein. All affected individuals in these families are homozygous for the mutations. Parents and siblings heterozygous for the mutant allele did not show any signs or symptoms of RP. CONCLUSIONS:These results provide strong evidence that mutations in RP1 can result in recessive as well as dominant retinitis pigmentosa. The findings suggest that truncation of RP1 before the BIF motif or within the terminal portion results in a simple loss of RP1 function, producing a recessive inheritance pattern. In contrast, disruption of RP1 within or immediately after the BIF domain may result in a protein with a deleterious effect and hence a dominant inheritance pattern.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Riazuddin SA,Zulfiqar F,Zhang Q,Sergeev YV,Qazi ZA,Husnain T,Caruso R,Riazuddin S,Sieving PA,Hejtmancik JFdoi
10.1167/iovs.04-1280keywords:
subject
Has Abstractpub_date
2005-07-01 00:00:00pages
2264-70issue
7eissn
0146-0404issn
1552-5783pii
46/7/2264journal_volume
46pub_type
杂志文章abstract：PURPOSE:To evaluate the expression of tissue inhibitor of metalloproteinases (TIMP) mRNA in corneal tissues before and at early time points (6 and 12 hours and 1, 3, and 5 days) after corneal infection with Pseudomonas aeruginosa. METHODS:Ribonuclease protection assays were used to detect and quantitate TIMP mRNA expr...
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
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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
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