Prenatal exclusion of choroideremia

Am J Med Genet. 1992 Dec 1;44(6):822-3. doi: 10.1002/ajmg.1320440621.

Abstract

We performed prenatal testing to predict the inheritance of choroideremia (CHM) using a linked polymorphic DNA marker, DXS95. DNA analysis of chorionic villi at the 12th week of pregnancy indicated that the allele at risk had not been passed from the heterozygous mother to the fetus. This prenatal exclusion of choroideremia was confirmed by polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis.

Publication types

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

MeSH terms

  • Adult
  • Chorionic Villi Sampling*
  • Choroideremia / genetics*
  • DNA Mutational Analysis
  • Female
  • Genetic Markers
  • Humans
  • Infant, Newborn
  • Male
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Pregnancy
  • X Chromosome*

Substances

  • Genetic Markers