Autosomal dominant retinitis pigmentosa : no evidence for nonallelic genetic heterogeneity on 3q

摘要: Since the initial report of linkage autosomal dominant retinitis pigmentosa (adRP) to long arm chromosome 3, several mutations in gene encoding rhodopsin, which also maps 3q, have been reported adRP pedigrees. However, there has some discussion as possibility a second locus on 3q. This suggestion important diagnostic and research implications must raise doubts about usefulness linked markers for reliable diagnosis RP patients. In order address this issue authors performed an admixture test (A-test) 10 D3S47-linked pedigrees found likelihood ratio heterogeneity versus homogeneity 4.90. They A-test, combining data from all families with known rhodopsin mutations. they obtained reduced homogeneity, 1.0. On basis these statistical analyses no significant support two loci Furthermore, using 40 CEPH families, localized D3S47-D3S20 interval, maximum lod score (Z[sub m]) 20 that qter-D3S47-rhodopsin-D3S20-cen is significantly more likely than any other order. addition,more » mapped m] = 30) microsatellite marker D3S621 relative region genome. 27 refs., 3 figs., tabs.« less