一个Paget骨病家系SQSTM1及TNFRSF11A基因突变分析

山东大学学报(医学版) ›› 2012, Vol. 50 ›› Issue (12): 107-113.

一个Paget骨病家系SQSTM1及TNFRSF11A基因突变分析

孙亚方1，王银昌2，王来城3，焦玉莲3，崔彬3，夏羽3，卢冰如3，赵跃然1,3

1.山东省医学科学院基础医学研究所济南大学山东省医学科学院与生命科学学院，济南 250062；
2.济南市第三人民医院放射科，济南 250101； 3.山东大学附属省立医院中心实验室，济南 250021

收稿日期:2012-05-28 出版日期:2012-12-10 发布日期:2012-12-10
通讯作者: 赵跃然 (1963- )，男，博士，教授，博士生导师，主要从事分子细胞免疫学和医药生物技术研究。 E-mail:yrzhao@sdu.edu.cn
作者简介:孙亚方(1985- )，女，硕士研究生，主要从事分子免疫学研究。 E-mail:sunyafang@163.com

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. 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

摘要/Abstract

摘要：

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。

关键词: Paget骨病; SQSTM1基因; TNFRSF11A基因; 基因突变; 单核苷酸多态性

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

中图分类号:

R392.12

孙亚方1，王银昌2，王来城3，焦玉莲3，崔彬3，夏羽3，卢冰如3，赵跃然1,3. 一个Paget骨病家系SQSTM1及TNFRSF11A基因突变分析[J]. 山东大学学报(医学版), 2012, 50(12): 107-113.

SUN Ya-fang1, WANG Yin-chang2, WANG Lai-cheng3, JIAO Yu-lian3, CUI Bin3, XIA Yu3, LU Bing-ru3, ZHAO Yue-ran1,3. Mutation analysis of SQSTM1 and TNFRSF11A genes in
a Chinese family with Paget disease of bone[J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2012, 50(12): 107-113.

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