An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q.
Retinitis pigmentosa is the most prevalent inherited disorder of the retina. It can be autosomal dominant (adRP), autosomal recessive (arRP) or X-linked (XLRP). A form of adRP mapping to chromosome 7q was reported in a large Spanish pedigree. We have typed DNA from the members of another Spanish family for polymorphic markers from the known candidate genes. Positive lod scores were obtained only for the markers located on 7q31-35, giving a maximum lod score of 2.98 (3.01 by multipoint analysis) at theta = 0.00 for D7S480. A brief clinical evaluation is given.
Millán
J M
JM
Unidad de Genética y Diag, Prenatal, Hospital La Fe, Valencia, Spain.
Martínez
F
F
Vilela
C
C
Beneyto
M
M
Prieto
F
F
Nájera
C
C
D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*
D005819:Genetic Markers