Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene.
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.
D000483:Alleles; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length