Evaluation of vitamin D receptor (VDR) gene polymorphisms (FokI, TaqI and ApaI) in a family with dentinogenesis imperfecta.

[dentinogenesis imperfecta]

Dentinogenesis imperfecta Type II (DGI -II ) is a condition inherited as an autosomal dominant trait and characterized by abnormal dentine structure affecting both the primary and secondary dentitions . The genetic etiology of the disease still remains unclear , suggesting a genetically heterogeneous background . The aim of this study is to manifest briefly DGI -II and to investigate the association between BsmI , TaqI and FokI polymorphisms of Vitamin D receptor (VDR ) gene and dentinogenesis imperfecta type II in a Turkish family by PCR-RFLP methodology . The affected mother and her two affected daughters were bb for BsmI polymorphism , whereas her unaffected son and her husband were Bb for the same polymorphism . One of the affected children was tt , the rest of the family were Tt for TaqI polymorphism , and all of the enrolled subjects were FF for FokI polymorphism . As a conclusion , BsmI polymorphism bb seems to be associated with (DGI -II ), but should be examined in larger numbers in order to be considered as a risk factor .