Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families.
Autosomal dominant exudative vitreoretinopathy is a disorder affecting primarily the development of the human retinal vascular system. The disease locus has recently been assigned to 11q13-q23 by linkage studies in two families. Two-point analysis on a total of four families has now revealed close linkage (Zmax = 8.34 at theta = 0.00) between the disease locus and D11S873. Multipoint linkage analysis mapped the disease locus between D11S527/D11S533 and D11S35 with a maximum lod score of over 11 directly at D11S873. No evidence appeared for genetic/linkage heterogeneity among the four families examined.
Abteilung für Pädiatrische Genetik der Kinderpoliklinik, Universität München, Germany.
B
B
Müller
U
U
Orth
C E
CE
van Nouhuys
C
C
Duvigneau
C
C
Fuhrmann
E
E
Schwinger
H
H
Laqua
A
A
Gal
D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D005128:Eye Diseases / Q000235:genetics*; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D014822:Vitreous Body / Q000378:metabolism*