PubMed · 1986 · 40 citations · 0 references
Life SciencesGeneticsMolecular GeneticsClassical GeneticsHuman GeneticsMedical GeneticsConnective Tissue DiseasesConnective Tissue DisordersGene MappingGenetic DisordersGenetic LinkageMendelian DisordersCol1a2 MutationsCollagen Type I GeneticsConnective Tissue Gene MutationsGenetic Connective Tissue DisordersGenetic Linkage AnalysisGenetic Linkage MappingHeritable Connective Tissue DisordersMarfan Syndrome Genetics
Marfan Syndrome is a genetic disorder of the connective tissue. Individuals from one large family with this disorder were genotyped for COL1A2 gene associated RFLPs. Our results demonstrated that the COL1A2 gene, encoding the proa2(I) collagen chain, segregated independently of the phenotype and it is therefore excluded as the mutant locus in this family.