Presymptomatic screening for multiple endocrine neoplasia type 2A with linked DNA markers. The MEN 2A International Collaborative Group

Lancet. 1991 Jan 5;337(8732):7-11. doi: 10.1016/0140-6736(91)93329-8.

Abstract

Seven DNA markers from the pericentromeric region of chromosome 10 were tested for linkage to MEN 2A in a panel of 17 families. Four of the markers proved to be tightly linked and therefore suitable for predictive testing. The markers were used to estimate carrier risks for individuals who had a negative biochemical screening test for thyroid C-cell hyperplasia. The analysis substantially altered the carrier risks of most of these individuals, which suggests that typing with DNA markers should be introduced into the screening programme of MEN 2A families. Accurate prenatal diagnosis for this disorder is also now possible.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aged
  • Chromosomes, Human, Pair 10*
  • DNA Probes
  • Female
  • Genetic Carrier Screening / methods
  • Genetic Linkage / genetics
  • Genetic Markers
  • Genetic Testing / methods
  • Humans
  • Male
  • Middle Aged
  • Multiple Endocrine Neoplasia / diagnosis
  • Multiple Endocrine Neoplasia / genetics*
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Predictive Value of Tests

Substances

  • DNA Probes
  • Genetic Markers