Abstract
In order to define a single major gene defect which could account for the Marfan syndrome (MS) phenotype we used a high frequency EcoRI restriction fragment length polymorphism in the pro 2(I) gene of type I collagen as a marker for genetic linkage studies. The presence or absence of one EcoRI recognition site creates a two allele system observed after hybridization with a 6.75kb pro 2(I) genomic probe (Tsipouras et al. JCI 72:1262, 1983). We studied affected and unaffected individuals in three families with MS. In family A the segregation of the clinical phenotype was concordant with the segregation of the marker allele, although random cosegregation could not be excluded due to the small number of informative matings. In family B the segregation of the clinical phenotype and marker allele was discordant. Family C was not informative due to lack of heterozygosity for the marker allele. Our data suggest the some variants of MS may be linked to mutations in or near the pro 2(I) collagen gene. This is in agreement with the observation that a structural alteration in the pro 2(I) chain of type I collagen results in the MS in one patient (PNAS 78:7745, 1981). Our data further suggest that MS is biochemically heterogeneous and that defects in more than one gene may result in the phenotype.
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Tsipouras, P., Francomano, C., Pyeritz, R. et al. GENETIC LINKAGE STUDIES IN THE MARFAN SYNDROME. Pediatr Res 18 (Suppl 4), 226 (1984). https://doi.org/10.1203/00006450-198404001-00801
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DOI: https://doi.org/10.1203/00006450-198404001-00801