Mutation analysis of MEPE and IBSP genes in two DGI-II families
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Aim. To detect the mutation of matrix extracellular phosphoglycoprotein (MEPE) and bone sialoprotein II (IBSP) in two Chinese DGI-II families for the pathogenic genes as the basis of clinical diagnosis and gene therapy. Methods. PCR and DNA sequencing were subjected to detect the possible mutations in MEPE and IBSP coding sequence and splice junction intron sequences. Results. A c. 1027G > A base pair transversion with a predicted amino acid residue change V330I were detected in MEPE; a c. 797G > A base pair transversion with a predicted amino acid residue change G219R were detected in IBSP, without the correlation between the families and phenotypes. Conclusion. MEPE and IBSP were excluded as the pathogenic gene of DGI-II in the two families, further reducing the candidate genes for the future gene therapy and diagnosis.
author list (cited authors)
Liu, J., Wang, X., Shi, J., Zhang, H., Hu, L., & Kong, X.