Autosomal dominant retinitis pigmentosa: a new multi-allelic marker (D3S621) genetically linked to the disease locus (RP4)
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چکیده
منابع مشابه
A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p.
A form of autosomal dominant retinitis pigmentosa (ADRP) mapping to chromosome 17p has been reported in a single large South African family. We now report a new family with severe early onset ADRP which maps to 17p. Linkage and haplotype analysis in this family places the ADRP locus in the 5 cM interval between markers AFMc024za5 and D17S1845, confirming the data obtained in the South African f...
متن کاملSLC7A14 linked to autosomal recessive retinitis pigmentosa
Retinitis pigmentosa (RP) is characterized by degeneration of the retinal photoreceptors and is the leading cause of inherited blindness worldwide. Although few genes are known to cause autosomal recessive RP (arRP), a large proportion of disease-causing genes remain to be revealed. Here we report the identification of SLC7A14, a potential cationic transporter, as a novel gene linked to arRP. U...
متن کامل3231 Frequencies of different forms of autosomal dominant retinitis pigmentosa and a new locus for adRP
m Seven loci for dominant retinitis pigmentoeehave been described in the literature. These include the Rhodopsin and Rdslperipherin genee. and anonymous loci identtfted only by linkage on 7p, 7q. aq, 17p and 19q. We wishedto estimatethe frequendesof the anonymous loci, and determinewhether any adRP loci remained to be found. &@g& DNAe were colleded from twenty ftve adRP families. These were tes...
متن کاملRhodopsin mutations in autosomal dominant retinitis pigmentosa.
DNA samples from 161 unrelated patients with autosomal dominant retinitis pigmentosa were screened for point mutations in the rhodopsin gene by using the polymerase chain reaction and denaturing gradient gel electrophoresis. Thirty-nine patients were found to carry 1 of 13 different point mutations at 12 amino acid positions. The presence or absence of the mutations correlated with the presence...
متن کاملPRPF4 mutations cause autosomal dominant retinitis pigmentosa.
Retinitis pigmentosa (RP), a disease characterized by progressive loss of photoreceptors, exhibits significant genetic heterogeneity. Several genes associated with U4/U6-U5 triple small nuclear ribonucleoprotein (tri-snRNP) complex of the spliceosome have been implicated in autosomal dominant RP (adRP). HPrp4, encoded by PRPF4, regulates the stability of U4/U6 di-snRNP, which is essential for c...
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ژورنال
عنوان ژورنال: Human Genetics
سال: 1995
ISSN: 0340-6717,1432-1203
DOI: 10.1007/bf00191820