Detection and exclusion of carriers of ornithine transcarbamylase deficiency by RFLP analysis

Clin Genet. 1986 May;29(5):449-52. doi: 10.1111/j.1399-0004.1986.tb00520.x.

Abstract

By examining a restriction fragment length polymorphism (RFLP) detected by a gene specific DNA probe of ornithine transcarbamylase (OTC), we have been able to follow the segregation of the defective gene in a family with OTC deficiency. We have identified three sisters of the proband as carriers, and excluded a fourth as a carrier.

Publication types

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

MeSH terms

  • DNA / genetics
  • DNA Restriction Enzymes
  • Female
  • Genetic Carrier Screening*
  • Humans
  • Infant, Newborn
  • Male
  • Ornithine Carbamoyltransferase / genetics*
  • Ornithine Carbamoyltransferase Deficiency Disease
  • Pedigree
  • Polymorphism, Genetic

Substances

  • DNA
  • Ornithine Carbamoyltransferase
  • DNA Restriction Enzymes