Objective: To scrutinize the linkage between dentinogenesis imperfecta type II and chromosome 4q21 in a Tianjin-Tanggu family.
Methods: Blood samples were collected from 13 members of the family. DNA was analyzed with 4 short tandem repeat polymorphisms markers UGATA62A11, DSP(P), SPP1 and D4S1563 Y using fluorescence-based PCR. The linkage between four markers on chromosome 4q21 and dentinogenesis imperfecta type II was tested by Lod score analysis.
Results: GATA62A11 and DSP(P) suggested linkage and yielded a Lod score of 1.63 at theta =0, and 1.68 at theta =0 by means of the MLINK software, respectively. Genotype and haplotype were acquired.
Conclusion: The disease gene of the dentinogenesis imperfecta type II family is located on chromosome 4q. The result will be helpful for the further identification of the dentinogenesis imperfecta type II gene.