Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families.

摘要: Autosomal dominant retinitis pigmentosa (adRP) has shown linkage to the chromosome 3q marker C17 (D3S47) in two large adRP pedigrees known as TCDM1 and adRP3. On basis of this evidence rhodopsin gene, which also maps 3q, was screened for mutations segregated with disease patients, several have now been identified. However, we report that, yet, no mutation found families first linked C17. Since highly informative system is available it not possible measure genetic distance between D3S47 accurately. We present a analysis locus (RHO) five proven rhodopsin–retinitis (rhodopsin-RP) families, using causative polymorphic markers. The distance, RHO D3S47, obtained by θ = .12, lod score 4.5. This contrasts peak scores 6.1 at .05 16.5 0 adRP3 TCDM1, respectively. These data would be consistent hypothesis that ADRP3 represent second on closer than locus. result shows care must taken when interpreting exclusion generated probe probably suitable predictive testing all 3q–linked families.