Dentinogenesis imperfecta type II and dentin dysplasia type II are diseases resulting in abnormal dentin formation, which have been mapped to overlapping regions of human chromosome 4q defined by markers D4S2691 and D4S2692 (6.6 cM) and D4S3291 and SPP1 (14.1 cM), respectively.
Genetic linkage studies have determined linkage between DGI type II and group-specific component (Gc, vitamin D binding protein), interferon (gamma)-induced cytokine protein 10 (INP10) and secreted phosphoprotein 1 (SSP1, osteopontin, bone sialoprotein 1, early T-lymphocyte activation 1).
A highly informative short tandem repeat polymorphism isolated at the SPP1 locus showed no recombination with the autosomal dominant disorder dentinogenesis imperfecta type II.