Localization of the genetic defect in multiple endocrine neoplasia type 1 within a small region of chromosome 11

Am J Hum Genet. 1989 May;44(5):751-5.

Abstract

Multiple endocrine neoplasia type I (MEN-1), a Mendelian disorder with an autosomal dominant mode of inheritance, causes hyperplasia in the parathyroid glands and hyperplasia or neoplasm in the anterior pituitary gland and/or the pancreatic islets. The genetic defect responsible for MEN-1 in three families was recently mapped to the long arm of chromosome II by linkage between the MEN-1 locus and the gene for skeletal muscle glycogen phosphorylase (PYGM) at 11q13. We have constructed a genetic linkage map of seven markers in the vicinity of the MEN-1 locus that has allowed us to map more precisely the gene associated with MEN-1; the target region has been narrowed to about 12 cM. The closely linked markers will be useful also for identification of likely carriers in families in which an allele responsible for MEN-1 segregates.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 11*
  • Crossing Over, Genetic
  • Genetic Linkage*
  • Genetic Markers
  • Humans
  • Lod Score*
  • Multiple Endocrine Neoplasia / genetics*
  • Mutation*

Substances

  • Genetic Markers