A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1 |
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Authors: | Xu SY; Schwartz M; Rosenberg T; Gal A |
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Institution: | Institut fur Humangenetik, Universitats-Krankenhaus Eppendorf, Hamburg, Germany. |
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Abstract: | We studied a large Danish family of seven generations in which autosomal
dominant retinitis pigmentosa (adRP), a heterogeneous genetic form of
retinal dystrophy, was segregating. After linkage had been excluded to all
known adRP loci on chromosomes 3q, 6p, 7p, 7q, 8q, 17p, 17q and 19q, a
genome screening was performed. Positive lod scores suggestive of linkage
with values ranging between Z = 1.58-5.36 at theta = 0.04-0.20 were
obtained for eight loci on proximal 1p and 1q. Close linkage without
recombination and a maximum lod score of 7.22 at theta = 0.00 was found
between the adRP locus (RP18) in this family and D1S498 which is on 1q very
near the centromere. Analysis of multiply informative meioses suggests that
in this family D1S534 and D1S305 flank RP18 in interval 1p13-q23. No
linkage has been found to loci from this chromosomal region in six other
medium sized adRP families in which the disease locus has been excluded
from all known chromosomal regions harbouring an adRP gene or locus
suggesting that there is (at least) one further adRP locus to be mapped in
the future.
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