[Mutation analysis of a Chinese family with genetic dentinogenesis imperfecta].
OBJECTIVE
To study the genetic etiology of an autosomal dominant dentinogenesis imperfecta in a Chinese family.


METHODS
The molecular change of the disease in the family was analyzed through the clinical examination, linkage analysis, mutational screening of the DSPP gene and restriction fragment length polymorphism analysis.


RESULTS
The disease related gene was completely linked with microsatellite marker D4S1534. We found a novel mutation in the first exon of the DSPP gene (c.49C>T, p.Pro17Ser). All patients in the family had the mutation, while this mutation was not observed in the normal individuals of this family and 100 unrelated controls.


CONCLUSIONS
The p.Pro17Ser identified in the family was a new pathogenic mutation. Our finding provided further understanding of the molecular mechanism of dentinogenesis imperfecta.
Qu
Er-jun
EJ
Department of Biological Engineering, Henan University of Urban Construction, Pingdingshan, Henan, 467044, PR China.
Zhang
Hong-bo
HB
Chen
Lan-ying
LY
Gu
Ling-biao
LB
D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D003811:Dentinogenesis Imperfecta / Q000235:genetics*; D005091:Exons; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010750:Phosphoproteins; D012795:Sialoglycoproteins; D055815:Young Adult; D000099311:Dentin Sialophosphoprotein
D016326:Extracellular Matrix Proteins; D010750:Phosphoproteins; D012795:Sialoglycoproteins; D000099311:Dentin Sialophosphoprotein