Hereditary cataract Perspective for prenatal screening

Abstract

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 γ-crystallin gene cluster was found. The restriction fragment length polymorphism within the γ-crystallin gene family is sufficiently informative to allow prenatal diagnosis of this disease within this family.

Key Words:

• hereditary cataract
• DNA linkage
• γ-crystallin gene