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Genetic mapping of loci for X‐linked retinitis pigmentosa
Author(s) -
Dahl N.,
Sundvall M.,
Pettersson U.,
Andréasson S.,
Anvret M.,
Kugelberg U.,
HagbyhnGericke A.,
Goonewardena P.
Publication year - 1991
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1991.tb03115.x
Subject(s) - locus (genetics) , genetics , retinitis pigmentosa , genetic linkage , biology , locus heterogeneity , lod score , genetic marker , gene mapping , gene , genetic heterogeneity , chromosome , phenotype
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.