Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family

R Dalgleish; J R Hawkins; M Keston

doi:10.1136/jmg.24.3.148

Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family

J Med Genet. 1987 Mar;24(3):148-51. doi: 10.1136/jmg.24.3.148.

Authors

R Dalgleish, J R Hawkins, M Keston

Abstract

The inheritance of restriction fragment length polymorphisms for two fibrillar collagen genes (COL1A2 and COL3A1) has been studied in a large Marfan syndrome kindred. We are able to show discordant segregation between the Marfan syndrome and each of the two collagen gene markers.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Alleles
Chromosome Mapping*
Collagen / genetics*
Female
Humans
Male
Marfan Syndrome / genetics*
Mutation*
Pedigree
Polymorphism, Restriction Fragment Length

Substances

Collagen