马凡综合征FBN1基因单倍型连锁分析  

FBN1 genetic diagnosis by haplotype analysis in Chinese patients with Marfan syndrome

作　　者：贾静[1] 伍严安[1] 薛士杰[2] 陈发林[1] 陈同[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

出　　处：《临床检验杂志》2004年第4期255-258,共4页Chinese Journal of Clinical Laboratory Science

摘　　要：目的　探讨FBN1基因微卫星检测对Marfan综合征 (MFS)症状前诊断的应用价值。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个MFS家系及 4 0名正常人进行单倍型分离分析。结果　所测定的 4个微卫星的单倍型分离分析结果与该 4个MFS家系中患者的发病情况相符。结论　所测定的 4个MFS家系 ,证实其致病基因与FBN1连锁。所采用的毛细管电泳技术检测PCR扩增产物简便、易行。Objective To study the significance of microsatellite detection for presymptomatic diagnosis of Marfan's syndrome.Methods By using four microsatellites in the flanking of the FBN1 gene on chromosome 15 as markers,the haplotype-segregation was analyzed by polymerase chain reaction (PCR) and capillary electrophoresis in 4 kindreds with Marfan's syndrome and 40 unrelated,unaffected control subjects.Results The results of the haplotype-segregation analysisis of the 4 kindreds with Marfan's syndrome were accordant with the phenotypes of the patients.Conclusion The mutant allele is linked to FBN1 gene in the 4 kindreds with Marfan's syndrome.Capillary electrophoresis is a simple, effective method for presymptomatic diagnosis of Marfan's syndrome.

关 键 词：马凡综合征 FBN1基因单倍型连锁分析 毛细管电泳 常染色体显性遗传病 

分 类 号：R596.1[医药卫生—内科学]