Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa

被引：0
|
作者：
Paloma, E
Hjelmqvist, L
Bayés, M
García-Sandoval, B
Ayuso, C
Balcells, S
Gonzàlez-Duarte, R
机构：
[1] Univ Barcelona, Fac Biol, Dept Genet, E-08071 Barcelona, Spain
[2] Univ Helsinki, FIN-00014 Helsinki, Finland
[3] Fdn Jimenez Diaz, Dept Genet, Madrid, Spain
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2000年 / 41卷 / 03期
关键词：
D O I：
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中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
PURPOSE. To assess the contribution of TULP1 to autosomal recessive retinitis pigmentosa (arRP). METHODS. Fifteen exons of the gene were screened by single-strand conformation polymorphism analysis of 7 (of 49) arRP pedigrees showing cosegregation with TULP1 locus markers. RESULTS. In one of the seven families two allelic mutations, TVS4-2delAGA and c.937delC, were found in exons 5 and 10, respectively. CONCLUSIONS. Two novel mutations in TULP1 were found to be associated with arRP. That they both compromise the gene product supports their pathogenicity. This gene was present in no more than 2% of a panel of 49 Spanish families affected by arRP.
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页码：656 / 659
页数：4
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