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。
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.
出处
《癌变·畸变·突变》
CAS
CSCD
2011年第5期335-339,共5页
Carcinogenesis,Teratogenesis & Mutagenesis
基金
国家自然科学基金重点项目(30630058
30371252)
关键词
大骨节病
基因多态性
连锁
Kashin-Beck disease
gene polymorphism
linkage
