Linkage relations of a locus for congenital total nuclear cataract

J Med Genet. 1978 Apr;15(2):113-5. doi: 10.1136/jmg.15.2.113.

Abstract

A family with an autosomal dominant form of congenital cataract, total nuclear cataract, was examined for genetic linkage between the cataract locus and 30 marker loci. Close linkage was excluded for all of the 21 informative loci. There was no significant evidence for linkage of the cataract locus with any of the marker loci.

Publication types

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

MeSH terms

  • Amylases / genetics
  • Blood Group Antigens
  • Cataract / genetics*
  • Child, Preschool
  • Female
  • Genes
  • Genes, Dominant*
  • Genetic Linkage
  • Humans
  • Male
  • Pedigree
  • Phosphoglucomutase / genetics
  • Transcobalamins / genetics
  • UTP-Hexose-1-Phosphate Uridylyltransferase / genetics
  • alpha 1-Antitrypsin / genetics

Substances

  • Blood Group Antigens
  • Transcobalamins
  • alpha 1-Antitrypsin
  • UTP-Hexose-1-Phosphate Uridylyltransferase
  • Amylases
  • Phosphoglucomutase