应用高通量测序技术检测一疑似马凡综合征家系
摘要
<正>马凡综合征(Marfan′s syndrome,MFS)是一种常染色体显性遗传病,发病率为1/5 000~[1],发病无性别倾向。30%为散发病例,外显率高,表现度差异大。临床上病变范围广泛,包括心血管、骨骼、眼睛、皮肤、肺脏、硬脊膜等器官。MFS主要的致病原因是编码细胞外基质蛋白原纤维蛋白-1(FBN1)的基因发生突变引起。目前临床诊断MFS主要参考Ghent校正标准~[2]。本文通过高通量测序结合Sanger测序对1个疑似马凡综合征家系
引文
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[2] Loeys BL,Dietz HC,Braverman AC,et al.The revised Ghent nosology for the Marfan syndrome[J].J Med Genet,2010,47(7):476-485.
[3] K?rkk? J, Kaitila I, L?nnqvist L, et al.Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions[J].J Med Genet. 2002,39(1):34-41.
[4] JensenSA,Reinhardt DP,Gibson MA,et al .Protein interaction studies of MAGP-1 with tropoelastin and fibrillin-1[J].J Biol Chem,2001,276:39661-39666.
[5] Collod-Beroud G,Le Bourdelles S,Ades L.Update of the UMD-FBN1 mutation database and creation of an FBN1 poiymor-phism database[J].Hum Mutat,2003,22(49):199-208.
[6] Ades LC,Holman KJ,Brett MS,et al.Ectopia lentis phenotypes and FBN1 gene[J].Am J Med Genet,2004,126:284-289.
[7] 邓婷.先天性晶状体脱位与FBN1基因[J].眼科研究,2008,26(2):157-160.