Screening for multiple endocrine neoplasia type 2A with DNA-polymorphism analysis

Henry Ford Hosp Med J. 1992;40(3-4):224-6.

Abstract

Nine chromosome 10 DNA markers (FNRB, D10S34, D10Z1, MEN203, D10S94, RBP3, D10S15, MBP [48.11], D10S22) were typed in two large Canadian pedigrees with multiple endocrine neoplasia type 2A (MEN 2A). These markers and the gene for MEN 2A (MEN2A) are believed to be in one linkage group spanning approximately 15 cM (male). MEN203 and D10S94 were informative and tightly linked to MEN2A with no recombinants observed in 26 meiotic events. D10S15 (MCK2), widely used in DNA genotyping predictions, demonstrated two recombinants in these two families. The use of multiple flanking markers increases both the likelihood of informativeness and the accuracy of risk assessments for predictive testing. We were able to assign a risk estimate for all 10 at-risk individuals.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Genetic Carrier Screening*
  • Genetic Linkage
  • Humans
  • Male
  • Multiple Endocrine Neoplasia / diagnosis
  • Multiple Endocrine Neoplasia / genetics*
  • Pedigree
  • Polymorphism, Genetic
  • Polymorphism, Restriction Fragment Length