Poly (T/A) polymorphism at the human retinal degeneration slow (RDS) locus

Kumar‐Singh, Rajendra; Jordan, Siobhán A.; Farrar, G. Jane; Humphries, Peter

doi:10.1093/nar/19.20.5800

Cited by 14 publications

(1 citation statement)

References 3 publications

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“…Microsatellite markers at β-subunit of rod phosphodiesterase (PDEB), rhodopsin (RHO) and recoverin (D17S786) genes were from the MapPairs set (Research Genetics, Huntsville, AL). The polymorphisms at the peripherin/RDS gene were as described elsewhere (Kumar-Singh et al 1991;Bayés et al 1996). Two internal variants, 1447A/G and 1683delC, were used for cosegregation analyses of the γ subunit of rod phosphodiesterase (PDEG) (Hahn et al 1994).…”

Section: Analysis Of Dna Polymorphismsmentioning

confidence: 99%

Putative association of a mutant ROM1 allele with retinitis pigmentosa

et al. 1997

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Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous form of retinal degeneration. Several genes and loci have been shown to be involved in the disease, although each of them could only account for a few cases. Mutations in the gene encoding ROM1, a rod-specific protein, have been putatively associated with several forms of RP. Here we describe a double mutant allele of this gene, P60T and T108M, present in two affected sibs and also in two healthy members of a Spanish RP family. The same double mutant allele was previously considered to be responsible for autosomal dominant RP in one family. We now report data that questions the potential pathogenicity of these two ROM1 mutations.3

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Section: Analysis Of Dna Polymorphismsmentioning

confidence: 99%