Genetic mapping of loci for X-linked retinitis pigmentosa.
Linkage analysis was performed in three Swedish families segregating for X-linked retinitis pigmentosa (XLRP), using five polymorphic DNA markers assigned to Xp. Individual recombination events were analyzed and two- and five-point linkage analysis was undertaken. In one family, a XLRP locus was mapped to the same position as OTC corresponding to RP3. In two families, a disease locus linked to OTC was excluded. In one family, recombination events indicate a locus for XLRP outside the interval (DXS84-OTC-DXS255-DXS14), most likely on the centromeric side of DXS14.
Department of Medical Genetics, University of Uppsala, Sweden.
N
N
Dahl
M
M
Sundvall
U
U
Pettersson
S
S
Andréasson
M
M
Anvret
U
U
Kugelberg
A
A
Hagbyhn-Gericke
P
P
Goonewardena
D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011995:Recombination, Genetic; D012174:Retinitis Pigmentosa / Q000145:classification / Q000235:genetics*; D014960:X Chromosome
D005819:Genetic Markers; D004247:DNA