Linkage data for Marfan syndrome and markers on chromosomes 1 and 11

J Med Genet. 1990 Feb;27(2):82-5. doi: 10.1136/jmg.27.2.82.

Abstract

Six large families with classical Marfan syndrome were studied using markers on chromosomes 1 and 11. Two of three families tested showed negative scores using D1S7 but a third family gave a positive score (0.92) at theta = 0.1. The other chromosome 1 markers typed (MUCI, NGFB, D1S8) excluded close linkage. Negative lod scores with two chromosome 11q22 markers (D11S84, D11S148) excluded at least 20 cM in this area (Z = less than -2), which was chosen for study as two enzymes responsible for collagen degradation (collagenase and stromelysin) are localised to this region.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 1 / analysis*
  • Chromosomes, Human, Pair 11 / analysis*
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Lod Score
  • Male
  • Marfan Syndrome / genetics*
  • Pedigree
  • Phenotype
  • Polymorphism, Restriction Fragment Length

Substances

  • Genetic Markers