Hereditary cataract. Perspective for prenatal screening.
The possibility that defects in lenticular proteins are one cause of hereditary cataract is discussed. Possible mutant loci for such proteins can be detected by linkage to restriction fragment length polymorphisms within or around these loci. In a family in which a Coppock cataract occurs, close linkage between the locus for this cataract and the gamma-crystallin gene cluster was found. The restriction fragment length polymorphism within the gamma-crystallin gene family is sufficiently informative to allow prenatal diagnosis of this disease within this family.
D020346:Aquaporins; D001483:Base Sequence; D002386:Cataract / Q000175:diagnosis / Q000235:genetics*; D003459:Crystallins / Q000235:genetics; D004247:DNA / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics; D008040:Genetic Linkage; D006801:Humans; D008562:Membrane Glycoproteins; D012150:Polymorphism, Restriction Fragment Length; D011296:Prenatal Diagnosis
D020346:Aquaporins; D003459:Crystallins; D005136:Eye Proteins; D008562:Membrane Glycoproteins; C030328:aquaporin 0; D004247:DNA