JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES) ›› 2012, Vol. 50 ›› Issue (12): 107-113.

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Mutation analysis of SQSTM1 and TNFRSF11A genes in
a Chinese family with Paget disease of bone

SUN Ya-fang1, WANG Yin-chang2, WANG Lai-cheng3, JIAO Yu-lian3,
CUI Bin3, XIA Yu3, LU Bing-ru3, ZHAO Yue-ran1,3   

  1. 1. Institute of Basic Medicine, Shandong Academy of Medical Science; School of Medicine and Life Sciences,
    University of Jinan, Jinan 250062, China;
    2. Department of Radiology, Shandong Jinan No.3 People’s Hospital, Jinan 250101, China;
    3. Medical Research Center, Provincial Hospital Affiliated to Shandong University, Jinan 250021, China
  • Received:2012-05-28 Online:2012-12-10 Published:2012-12-10

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Abstract:

Objective   To investigate whether mutation in SQSTM1 or TNFRSF11A genes was the genetic cause of Paget’s disease of bone(PDB) in a Chinese pedigree.  Methods   One Chinese family with Paget’s disease of bone was examined. Genomic DNA was extracted from the blood samples of the patients and unaffected members of the pedigree. Polymerase chain reaction(PCR) was performed to amplify all exons of the SQSTM1 gene and TNFRSF11A gene and the PCR products were directly sequenced to detect the mutation. The sequence results were compared to the normal sequence of GenBank.  Results   No mutation but 14 previously reported single nucleotide polymorphisms(SNP) were identified in the two genes. Conclusion   The PDB in this pedigree is not associated with any of the SNPs. PDB in this pedigree may be caused by genes other than SQSTM1 and TNFRSF11A.

Key words: Paget’s disease of bone; SQSTM1 gene; TNFRSF11A gene; Gene mutation; SNPPaget

CLC Number: 

  • R392.12
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