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Identification of the DSPP mutation in a new kindred and phenotype–genotype correlation
Lee, S‐,K,Lee, K‐,E,Hwang, Y‐,H,Kida, M,Tsutsumi, T,Ariga, T,Park, J‐,C,Kim, J‐,W Blackwell Publishing Ltd 2011 Oral diseases Vol.17 No.3
<P> <I>Oral Diseases</I> (2011) <B>17</B>, 314–319</P><P><B>Objective: </B> Hereditary dentin defects can be grouped into three types of dentinogenesis imperfecta (DGI) and two types of dentin dysplasia. Tooth enamel is considered normal in patients with hereditary dentin defects, but is easily worn down and fractured due to <I>DSPP</I> mutation‐induced altered dentin properties. The purposes of this study were to identify genetic cause of a family with type II DGI and enamel defects.</P><P><B>Materials and methods: </B> We identified a family with type II DGI and a unique form of hypoplastic enamel defect affecting occlusal third of the crown. Family members were recruited for the genetic analysis and DNA was obtained from peripheral whole blood.</P><P><B>Results: </B> Mutational analysis revealed a T to A transversion in exon 3 of the <I>DSPP</I> (c.53T>A, p.V18D). Haplotype analysis showed that the same mutation arose separately in two different families having DGI with similar enamel defects, indicating that this phenotype is associated with this specific <I>DSPP</I> mutation. Clinical features suggest that enamel formation was affected in the affected individuals during early amelogenesis, in addition to the dentin defect.</P><P><B>Conclusions: </B> We observed that a <I>DSPP</I> gene mutation not only influences dentinogenesis but also affects early stage amelogenesis.</P>
임윤규(Y.K. Lim),K. Okazaki,S. Matsuki,K. Ogasawara,H. Kida,이영순(Y.S. Lee) 한국예방수의학회 1998 예방수의학회지 Vol.22 No.3
Synthetic petide vaccines prepared according to the cassette theory (Naruse et al., 1994), formalin-inactivated virus and ether-split vaccine of influenza virus A/Aichi/68 (H3N2) were administered intranasally to the pigs. The peptide vaccines contained single or double sets of the peptide sequence of hemagglutinin 127~133 of influenza virus A/Aichi/2/68(H3N2) inserted into the H-2 class allele specific amino acid motif of the agretope composed of residues 43-58 of pigeon cytochrome c in the mouse bearing Ak or Ab. After 4 times immunization, pigs were challenged with 10⁴⁻⁵ PFU of virus intranasally. Intranasal immunization of the pigs with inactivated virus vaccine and split virus vaccine induced antibody production against A/Aichi/2/68(H3N2) virus, protecting them from infection. Synthetic peptide vaccine which contains 2 sets of epitope amino acid sequence evoked protective immune response although antibody response was not detected in the pigs. The present results indicated that intranasal route can be applied for inducing not only mucosal immunity but also systemic immunity against influenza virus infection. Based on the present finding we assume that synthetic peptide vaccine prepared according to Cassette theory may be applicable to the heterogenous species including human.
Lim, Y.K.,Okazaki, K.,Matsuki, S.,Ogasawara, K.,Kida, H.,Lee, Y. S. 濟州大學校 農科大學 動物科學硏究所 1998 動物科學論叢 Vol.13 No.1
Synthetic petide vaccines prepared according to the cassette theory(Naruse et al., 1994), formalin-inactivated virus and ether-split vaccine of influenza virus A/Aichi/68(H3N2) were administered intranasally to the pigs. The peptide vac-cines contained single or double sets of the peptide sequence of hemagglutinin 127-133 of influenza virus A/Aichi/2/68(H3N2) inserted into the H-2 class allele specific amino acid motif of the agretope composed of residues 43-58 of pigeon cytochrome c in the mouse bearing A^(k) or A^(b). After 4 times immuniza- tion, pigs were challenged with 10^(4-5) PFU of virus intranasally. Intranasal immunization of the pigs with inactivated virus vaccine and split virus vaccine induced antibody production against A/Aichi/2/68( H3N2) virus, protecting them from infection. Synthetic peptide vaccine which contains 2 sets of epitope amino acid sequence evoked protective immune response although antibody response was not detected in the pigs. The present results indicated that intranasal route can be applied for inducing not only mucosal immunity but also systemic immunity against influenza virus infection. Based on the present finding we assume that synthetic peptide vaccine prepared according to Cas-sette theory may be applicable to the heterogenous species including human.