马凡综合征FBN1突变的一个家系分析及产前诊断  

Pedigree analysis and prenatal diagnosis of FBN1 mutation for a Chinese family with Marfan syndrome

作　　者：范雪娇[1] 陶敏[1] 黄肖利[1] 卢鑫鑫[1] 伍严安[1] 

机构地区：[1]福建医科大学省立临床医学院,福建省立医院检验科,福州350001

出　　处：《临床检验杂志》2014年第10期746-749,共4页Chinese Journal of Clinical Laboratory Science

基　　金：福建省自然科学基金(C0810004)

摘　　要：目的对一马凡综合征(Marfan's syndrome,MFS)个例进行原纤维蛋白-1基因(FBN1)突变分析并对该家系的1例MFS孕妇进行产前诊断。方法提取先证者及其家族成员外周全血基因组DNA,先证者羊水细胞DNA和培养后羊水细胞的RNA。用PCR和DNA双向测序技术检测存在于FBN1外显子中的潜在突变。RT-PCR扩增RNA检测所发现突变的相应外显子并进行基因测序。结果发现该先证者FBN1基因外显子23错义突变c.2785A>C(p.Thr929Pro),其患MFS的父亲和哥哥发现同样突变。该家族其他表型正常的成员该位点未发现突变。胎儿羊水细胞的DNA与羊水培养细胞RNA均未发现该位点的突变。结论 FBN1错义突变c.2785A>C(p.Thr929Pro)为该家族的致病原因,该MFS孕妇的胎儿未遗传该FBN1的致病突变。Objective To analyze the mutation offibrillin-1 （FBN1） gene in a Chinese family with Marfan syndrome （MFS） and provide prenatal diagnosis for a pregnant woman with Marfan syndrome in the family. Methods The genomic DNA was extracted from peripheral blood of the proband and her family members. The genomic DNA of the fetus was obtained from amniotic fluid cells of the proband and RNA was from the cultured amniotic fluid cells. Potential mutations in exons of FBN1 were detected with PCR followed by bi-directional sequencing. The RNA of amniotic fluid cells was amplified by RT-PCR and the exon corresponding to FBN1 mutation was sequenced. Results A missense mutation（c. 2785A 〉 C, Thr929Pro） in exon 23 of FBN1 was detectable in the proband, her father and brother who were also diagnosed as Marfan syndrome patients. No identical mutation was observed in the other members with normal phenotype in this family. No missense mutation at the locus was observed in the DNA and RNA of either amniotic fluid cells or cultured amniotic fluid cells. Conclusion The missense mutation （c. 2785A 〉 C, Thr929Pro） should be the causative factor of the Marfan syndrome family. No inherited mutations in FBN1 gene was found in the fetus of the pregnant woman with Marfan syndrome.

关 键 词：MARFAN综合征 原纤维蛋白-1 基因突变 产前诊断 

分 类 号：Q343.13[生物学—遗传学]