Molecular Analysis and Genetic Mapping of the Rhodopsin Gene in
Families with Autosomal Dominant Retinitis Pigmentosa
S. Bunge, H. Wedemann, D. David, D.J. Terwilliger,
L.I. Van den Born, C. Auleha-Scholz, C. Samanns, M. Horn,
J. Ott, E. Schwinger, A. Schinzel, M.J. Denton, A. Gal
Genomics , 17(1), 230--233 (1993 Jul)
Abstract
Eighty-eight patients/families with autosomal dominant retinitis
pigmentosa (RP) were screened for rhodopsin mutations. Direct
sequencing revealed 13 different mutations in a total of 14 (i.e.,
16%) unrelated patients. Five of these mutations (T4K, Q28H, R135G,
F220C, and C222R) have not been reported so far. In addition,
multipoint linkage analysis was performed on two large families with
autosomal dominant RP due to rhodopsin mutations by using five DNA
probes from 3q21-q24. No tight linkage was found between the
rhodopsin locus (RHO) and D3S47 (theta max = 0.08). By six-point
analysis, RHO was localized in the region between D3S21 and D3S47,
with a maximum lod score of 13.447 directly at D3S20.
