一个Paget骨病家系SQSTM1及TNFRSF11A基因突变分析

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

目的研究一Paget骨病家系SQSTM1基因及TNFRSF11A基因突变情况。方法收集一Paget骨病家系,家系成员外周血中提取基因组DNA,应用聚合酶链式反应、直接测序对该家系成员SQSTM1及TNFRSF11A基因外显子进行测序。测序结果与GenBank公布的SQSTM1和TNFRSF11A基因正常序列对比,寻找有无突变。结果在该家系中未发现与Paget骨病共分离的致病基因突变,检测到14个已知的单核苷酸多态性。结论该家系成员的发病情况与SQSTM1、TNFRSF11A基因中发现的SNP无相关性,排除其为该Paget骨病家系致病基因的可能性。

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 pedi- gree. 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.