Refining disease mechanisms in genetic skeletal diseases
Look back in history………
25 years ago this month aggrecan was excluded as the disease gene for achondroplasia and pseudoachondroplasia based on genetic linkage studies in several families.
This is how it was done back then kids!
Discordant inheritance of CSPGCP BglI polymorphic marker and disease phenotype in family with achondroplasia. In this pedigree, linkage of achondroplasia to the CSPGCP (aggrecan) locus is excluded because individual I-2 transmitted the B allele from his unaffected mother (1-3) to his affected daughter (1-2).
Absence of linkage between CSPGCP gene (aggrecan) and pseudoachondroplasia. The HaeIII polymorphism was used to evaluate a three generation family with pseudoachondroplasia. This family probably represents an example of gonadal mosaicism, since both individuals in generation I were phenotypically unaffected. Linkage of pseudoachondroplasia to the CSPGCP (aggrecan) locus is excluded because individual 1-4 transmitted the same allele to both his affected daughter and his unaffected daughter.