Abstract
Type II collagen is the predominant collagen of cartilage. This study determines the cause of the HindIII 7 kb (usual, 14 kb), polymorphic band and investigates its application to linkage analyses in achondroplasia. The pertinent restriction sites present in the isolated lambda genomic clones were mapped. Southern filters of HindIII/EcoRI sequential digestions of DNA from individuals with the 7/7, 7/14 and 14/14 HindIII genotypes hybridized to pgHCol(II)A established that the 7 kb band is due to the presence of a new HindIII site 7 kb upstream from the 3' end of pgHCol(II)A. The distribution of the HindIII genotypes in 23 achondroplasts differed from that of the normal population. The gene frequencies of the 7/7, 7/14 and 14/14 genotypes are 0.35 (normal population 0.13), 0.35 (0.52) and 0.30 (0.35). The observation suggests that the HindIII genotypes segregate differently in the population of achondroplasts than in the normal population and may suggest a relationship between the type II collagen gene and achondroplasia. Segregation of the HindIII polymorphic site was analyzed in 9 families with achondroplasia. These families were uninformative. Polymorphic restriction sites in the type II collagen gene should prove useful in linkage analyses of achondroplasia and other diseases which segregate with chromosome 12. (Supported by March of Dimes, AM-33910 and HD-04583).
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Eng, C., Strom, C. & Gartner, L. 818 ANALYSIS OF A Hindi II POLYMORPHISM IN THE HUMANTYPE II COLLAGEN GENE IN ACHONDROPLASIA. Pediatr Res 19, 247 (1985). https://doi.org/10.1203/00006450-198504000-00848
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DOI: https://doi.org/10.1203/00006450-198504000-00848