title: Genetic linkage analysis of autosomal dominant congenital cataracts with lens-specific DNA probes and polymorphic phenotypic markers.
abstract: The authors studied a four-generation family with autosomal dominant congenital cataracts (ADCCs) using linkage analysis with 23 polymorphic phenotypic markers and DNA restriction fragment length polymorphisms (RFLPs) detected by lens-specific DNA probes. A total of 19 family members were studied and the ten affected members had embryonal lens opacities. Close linkage was rejected with DNA probes encoding beta-crystallin, gamma-crystallin, and the major intrinsic protein of the lens fiber membrane (MIP) excluding defects of these genes as the cause of the cataract in this family. No statistically significant lod scores were produced with the polymorphic phenotypic markers. These results support the genetic heterogeneity of ADCCs.
authors.affiliation: Jules Stein Eye Institute, UCLA School of Medicine 90024-1771.
authors.forename: D J
authors.initials: DJ
authors.lastname: Barrett
authors.forename: R S
authors.initials: RS
authors.lastname: Sparkes
authors.forename: M B
authors.initials: MB
authors.lastname: Gorin
authors.forename: S P
authors.initials: SP
authors.lastname: Bhat
authors.forename: M A
authors.initials: MA
authors.lastname: Spence
authors.forename: M L
authors.initials: ML
authors.lastname: Marazita
authors.forename: J B
authors.initials: JB
authors.lastname: Bateman
mesh_terms: D020346:Aquaporins; D002386:Cataract / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D003459:Crystallins / Q000235:genetics; D015342:DNA Probes; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007908:Lens, Crystalline / Q000378:metabolism / Q000502:physiology*; D008297:Male; D008562:Membrane Glycoproteins; D010375:Pedigree; D010641:Phenotype
chemical_list: D020346:Aquaporins; D003459:Crystallins; D015342:DNA Probes; D005136:Eye Proteins; D005819:Genetic Markers; D008562:Membrane Glycoproteins; C030328:aquaporin 0