›› 2011, Vol. 23 ›› Issue (5): 335-339.doi: 10.3969/j.issn.1004-616x.2011.05.003

• 论著 • 上一篇    下一篇

大骨节病核心家系12号染色体上8个STR位点与大骨节病的连锁分析

高晓云,康 磊,于 敏 ,周玉玲,郭 雄*   

  1. 1. 西安交通大学医学院免疫系，陕西 西安 710061； 2. 西安交通大学公共卫生系，教育部环境与疾病相关基因重点实验室，陕西 西安 710061
  • 收稿日期:2010-11-09 修回日期:2011-05-26 出版日期:2011-09-30 发布日期:2011-09-30
  • 通讯作者: 郭 雄

Linkage analysis between 8 STR markers of chromosome 12 and Kashin-Beck disease in nuclear families

GAO Xiao-yun，KANG Lei，YU Min，ZHOU Yu-ling，GUO Xiong*   

  1. 1. Department of Immunology, Medical College, Xi’an Jiaotong University, Xi’an 710061; 2. Faculty of Public Health, Key Laboratory of Environment and Diseases Related Genes of Ministry of Education, Medical College, Xi’an Jiaotong University, Xi’an 710061, Shaanxi, China
  • Received:2010-11-09 Revised:2011-05-26 Online:2011-09-30 Published:2011-09-30
  • Contact: GUO Xiong

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摘要： 目的： 分析大骨节病核心家系12号染色体上8个短串联重复序列 (short tandem repeat，STR)位点与大骨节病的连锁关系。方法：依据大骨节病临床诊断标准诊断先证者及23个核心家庭的90例成员并收集其血样。采用GeneScan扫描方法，对12号染色体上的D12S1613、D12S1725、D12S1663、D12S1697、D12S1675、D12S358、D12S1638 和D12S1682共8个STR位点的基因多态性进行分析，统计各位点的基因频率，并进行家系连锁分析。结果：12号染色体上的D12S1613、D12S1725、D12S1663、D12S1697、D12S1675、D12S358、D12S1638 和D12S1682在核心家系中分别检出11、10、5、5、10、8、7和11共8种等位基因，其中D12S1725 STR位点与大骨节病的对数优势分数(LOD)值为2.52。结论：大骨节病连锁位点可能位于D12S1725位点附近。

关键词: 大骨节病, 基因多态性, 连锁

Abstract: OBJECTIVE: To analyze linkage between 8 short tandem repeat (STR) markers of chromosome 12 and Kashin-Beck disease (KBD)in nuclear families. METHODS：The probands in 23 nuclear families and their 90 members diagnosed by national clinical criteria to diagnose KBD，and their blood samples were collected. The types of the 8 STR locus (D12S1613，D12S1725，D12S1663，D12S1697，D12S1675，D12S358，D12S1638 and D12S1682) polymorphisms were measured by gene scan，and gene frequencies and linkage analyses calculated between these polymorphisms and KBD. RESULTS：11，10，5，5，10，8，7 and 11 alleles on 8 STR locus (D12S1613， D12S1725，D12S1663，D12S1697，D12S1675，D12S358，D12S1638 and D12S1682) of chromosome 12 were detected，and the LOD scores of D12S1725 was 2.52. CONCLUSION：The susceptable gene linkage locus of KBD may be close to maker D12S1725.

Key words: Kashin-Beck disease, gene polymorphism, linkage

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