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中国人支气管哮喘基因连锁标记的研究 被引量:5

Linked marker analysis of bronchial asthma in China
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摘要 目的探索短串联重复序列D5S436和D5S658在支气管哮喘家系连锁分析中的应用价值。方法应用聚合酶链反应(PCR)扩增上述2个短串联重复序列,对扩增产物进行聚丙烯酰胺变性凝胶电泳检测,银染色显色分析结果。结果92例无血缘关系的中国人中,D5S436检测到8个等位片段,22种表现型,杂合率为78%,多态信息量(PIC)为076;D5S658检测到9个等位片段,28种表现型,杂合率为73%,PIC为080。6个哮喘家系研究显示,哮喘相关性状(包括哮喘)与D5S436的最大lod值为2490(θ=01时)。结论D5S436和D5S658是两个较好的遗传连锁标记;连锁分析发现,在中国人中,支气管哮喘的易感基因可能在染色体5q31~33附近。 Objective To study the clinical application value of genetic linkage analysis for bronchial asthma with two STRsD5S436 and D5S658. Methods Polymorphism of the two STRs were amplified by polymerase chain reaction, and the alleles identification were performed with denaturing polyacrylamide gel electrophoresis and silverstaining techniques. Results In 92 unrelated Chinese individuals, 8 alleles and 22 phenotypes in D5S436, 9 alleles and 28 phenotypes in D5S658 were observed. The heterozygosities were 78% and 73% respectively. The polymorphism information contents (PIC) were 076 and 0.80 respectively. Linkage analysis showed linkage of asthma related phenotypes (including asthma) with D5S436 on chromosome 5q (lod=2490, =01). ConclusionsD5S436 and D5S658 were good genetic markers. Linkage analysis demonstrates that locus on chromosome 5q3133 maybe was linked to the development of asthma in Chinese population.
出处 《中华结核和呼吸杂志》 CAS CSCD 北大核心 1999年第7期408-410,共3页 Chinese Journal of Tuberculosis and Respiratory Diseases
基金 北京市自然科学基金
关键词 哮喘 遗传学 基因连锁标记 sthmaGeneticsGeneLinkage
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