Exclusion of COL1A1, COL1A2, and COL3A1 Genes as Candidate Genes for Ehlers-Danlos Syndrome Type I in One Large Family

Hum Genet. 1991 Dec;88(2):125-9. doi: 10.1007/BF00206058.

Abstract

Ehlers-Danlos syndrome (EDS) type I is a generalized connective tissue disorder, the major manifestations of which are soft, velvety hyperextensible skin and moderately severe joint hypermobility. The gene defect or defects causing EDS type I have not yet been defined, but previous observations suggested that the syndrome may be caused by mutations in the genes for type-I collagen (COL1A1 and COL1A2) or type-III collagen (COL3A1). Here, we performed linkage studies for these three genes in large Azerbaijanian family with EDS type I. Three polymorphisms in the COL3A1 gene, two in the COL1A1 gene, and one in the COL1A2 gene were tested using the polymerase chain reaction. The data obtained excluded linkage of any of the three genes to EDS type I in the family.

MeSH terms

  • Base Sequence
  • Collagen / genetics*
  • Ehlers-Danlos Syndrome / genetics*
  • Female
  • Genetic Linkage / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length*

Substances

  • Collagen