Genetic mapping of hereditary mixed polyposis syndrome to chromosome 6q

Am J Hum Genet. 1996 Apr;58(4):770-6.


Hereditary mixed polyposis syndrome (HMPS) is characterized by atypical juvenile polyps, colonic adenomas, and colorectal carcinomas. HMPS appears to be inherited in an autosomal dominant manner. Genetic linkage analysis has been performed on a large family with HMPS. Data did not support linkage to the APC locus or to any of the loci for hereditary nonpolyposis colorectal cancer. Evidence that the HMPS locus lies on chromosome 6q was, however, provided by significant two-point LOD scores for linkage between HMPS and the D6S283 locus. Analysis of recombinants and multipoint linkage analysis suggested that the HMPS locus lies in a 4-cM interval containing the D6S283 locus and flanked by markers D6S468 and D6S301.

MeSH terms

  • Adenoma / genetics
  • Adenomatous Polyposis Coli / genetics*
  • Adult
  • Aged
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 6*
  • Colonic Neoplasms / genetics*
  • Colorectal Neoplasms / genetics
  • Female
  • Genetic Linkage
  • Heterozygote
  • Humans
  • Male
  • Middle Aged