毛细管电泳技术检测原纤蛋白1基因微卫星标记  

The Microsatellite Markers of the Fibrillin-1 Gene Detected by Capillary Electrophoresis

作　　者：贾静[1] 伍严安[1] 薛士杰[2] 陈发林[1] 黄肖利[1] 

机构地区：[1]福建省立医院检验科,福州350001 [2]福建省医学科学研究所,福州350001

出　　处：《福建医科大学学报》2003年第3期260-262,F002,共4页Journal of Fujian Medical University

摘　　要：目的　探讨毛细管电泳技术对检测原纤蛋白 1(FBN1)基因微卫星标记的应用价值。　方法　应用 15号染色体 FBN1基因侧翼区的 4个微卫星为遗传标记 ,联合运用荧光标记引物的聚合酶链反应和毛细管电泳技术对 4 0名正常人的 FBN1基因微卫星标记进行检测。　结果　毛细管电泳技术检测 FBN1微卫星方法简便稳定 ,重复性好。所测定的 4 0名正常人 FBN1微卫星基因频率与国外学者报道存在一定差异。　结论　毛细管电泳技术检测Objective\ To study the role of capillary electrophoresis in detecting the microsatellite markers of the fibrillin\|1(FBN1) gene.\ Methods\ Four FBN1 gene microsatellites located in 15q chromosome were detected in 40 unrelated subjects by fluorescent PCR and capillary electrophoresis.\ Results\ The capillary electrophoresis was a stable and convenient method to detect the microsatellite of FBN1 gene.\ Allele freqiencies detected by capillary electrophoresis in the 40 unrelated subjects were different from the foreign reported before.\ Conclusion\ The capillary electrophoresis had shown to be a simple method to detect the FBN1 microsatellite in presymptomatic diagnosis of the Marfan's syndrome.

关 键 词：电泳 毛细管 原纤蛋白1基因 马凡综合征 

分 类 号：R596.1[医药卫生—内科学]