A locus for a human hereditary cataract is closely linked to the gamma-crystallin gene family

Proc Natl Acad Sci U S A. 1987 Jan;84(2):489-92. doi: 10.1073/pnas.84.2.489.

Abstract

Within the human gamma-crystallin gene cluster polymorphic Taq I sites are present. These give rise to three sets of allelic fragments from the gamma-crystallin genes. Together these restriction fragment length polymorphisms define eight possible haplotypes, three of which (Q, R, and S) were found in the Dutch and English population. A fourth haplotype (P) was detected within a family in which a hereditary Coppock-like cataract of the embryonic lens nucleus occurs in heterozygotes. Haplotype P was found only in family members who suffered from cataract, and all family members who suffered from cataract had haplotype P. The absolute correlation between the presence of haplotype P and cataract within this family shows that the gamma-crystallin gene cluster and the locus for the Coppock-like cataract are closely linked [logarithm of odds (lod) score of 7.58 at its maximum at phi = 0]. This linkage provides genetic evidence that the primary cause of a cataract in humans could possibly be a lesion in a crystallin gene.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cataract / genetics*
  • Chromosomes, Human, Pair 2*
  • Crystallins / genetics*
  • DNA Restriction Enzymes
  • Female
  • Genes*
  • Genetic Linkage*
  • Humans
  • Male
  • Nucleic Acid Hybridization
  • Pedigree

Substances

  • Crystallins
  • DNA Restriction Enzymes